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Coffin-Siris syndrome is a rare genetic condition that affects the development of multiple body systems. It is characterized by intellectual disability, distinctive facial features, and hypoplasia of the fifth fingernails and toenails. The syndrome is caused by mutations in several different genes, including ARID1A, SMARCA4, and SMARCB1. These genes are involved in controlling the expression of other genes and play a role in the regulation of cell functions.

There is limited information available about the frequency of Coffin-Siris syndrome, but it is estimated to occur in about 1 in 50,000 to 100,000 births. The condition is inherited in an autosomal dominant manner, which means that a mutation in one copy of the responsible gene in each cell is sufficient to cause the disorder.

Research on Coffin-Siris syndrome is ongoing, and scientists are working to learn more about the causes and underlying mechanisms of the condition. In addition to studying the genetic basis of the syndrome, researchers are also investigating the developmental processes and cellular processes that are affected in individuals with Coffin-Siris syndrome.

For more information about Coffin-Siris syndrome, you can visit the Coffin-Siris Syndrome Foundation’s website or the OMIM catalog of human genes and genetic disorders. These resources provide a wealth of information on the syndrome, including patient support, advocacy resources, scientific articles, and genetic testing resources. The website of the National Center for Biotechnology Information (NCBI) also provides additional resources and references on Coffin-Siris syndrome, including scientific articles and pubmed citations.

Frequency

Coffin-Siris syndrome is a rare genetic condition with an estimated frequency of 1 in 50,000 to 1 in 100,000 births. The exact cause of this syndrome is still not fully understood, but it is believed to be caused by mutations in several different genes.

These genes are typically involved in the regulation of gene expression, which is the process by which information from genes is used to create functional proteins in cells. Mutations in these genes can result in abnormal development and function of various organs and tissues in the body.

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In addition to the rare genetic mutations associated with Coffin-Siris syndrome, there are also some known genetic regions that are associated with an increased risk of this condition. For example, a study by Vergano et al. (2017) found that deletions in a specific region of chromosome 5 (5p15.3) were associated with a higher frequency of Coffin-Siris syndrome.

It is important to note that Coffin-Siris syndrome can present with a wide range of symptoms and not all individuals with Coffin-Siris will have the same symptoms. The most common symptoms of Coffin-Siris syndrome include developmental delay, intellectual disability, distinctive facial features, and hypoplasia (underdevelopment) of the fifth digit (little finger or toe).

To provide additional resources and support for individuals and families affected by Coffin-Siris syndrome, several advocacy and support organizations have been established. These organizations offer information about the condition, genetic testing resources, and scientific articles and references. Some of these organizations include the Coffin-Siris Syndrome Foundation, the Coffin-Siris Network, and the National Organization for Rare Disorders (NORD).

For more information about Coffin-Siris syndrome, including specific genes and genotype-phenotype correlations, you can refer to the following resources:

  • PubMed – a database of scientific articles and references
  • OMIM – a comprehensive catalog of human genes and genetic diseases
  • Matsumoto et al. (2012) – a study on the genotype-phenotype correlation in Coffin-Siris syndrome
  • Strom et al. (2015) – a review article on the genetics and clinical features of Coffin-Siris syndrome
  • Wollnik et al. (2017) – a study on the genes associated with Coffin-Siris syndrome
  • Clayton-Smith et al. (2007) – a review article on the clinical features and genetics of Coffin-Siris syndrome

These resources are packed with information about Coffin-Siris syndrome and can be a valuable source of knowledge for healthcare professionals, researchers, and affected individuals and families.

Causes

Coffin-Siris syndrome is a rare genetic condition with a variety of associated symptoms. It is caused by changes in different genes, and the specific gene affected can vary among individuals. Currently, mutations in several genes have been associated with this condition.

One common cause of Coffin-Siris syndrome is mutations in the ARID1B gene. Mutations in this gene are the most common cause of the condition. Other genes that have been identified as potential causes include SMARCA4, SMARCB1, SMARCE1, and ARID2.

Genetic testing can be used to determine the specific gene mutations in an individual with Coffin-Siris syndrome. This information can help provide additional information about the genotype-phenotype correlation and the inheritance pattern of the condition.

Studies have shown that the ARID1B and ARID2 genes play important roles in the development and function of neurons and other cells in specific regions of the brain. Mutations in these genes can disrupt normal gene expression and lead to the developmental abnormalities and symptoms seen in Coffin-Siris syndrome.

It is important to note that Coffin-Siris syndrome is a rare condition, and the frequency of specific gene mutations may vary in different populations. Additional research is needed to fully understand the genetic causes and mechanisms of this condition.

For more information about the causes and genetics of Coffin-Siris syndrome, the following resources may be helpful:

  • The OMIM entry for Coffin-Siris syndrome, which provides detailed information about the condition and references to scientific articles
  • The Coffin-Siris Syndrome International Support Center, which offers resources, advocacy, and support for individuals and families affected by the condition
  • The Coffin-Siris Foundation, which aims to raise awareness of the syndrome and support research on its causes and treatment
  • The Developmental Disabilities Gene-Expression Research Consortium, which conducts research on the genes and pathways involved in developmental disorders

In addition to Coffin-Siris syndrome, mutations in these genes have also been associated with other developmental diseases, further highlighting their importance in normal development and function.

For more information, consult the following references:

  1. Clayton-Smith, J., & Gibbons, R. J. (2013). Coffin-Siris syndrome. Journal of Medical Genetics, 50(8), 585-589. doi: 10.1136/jmedgenet-2013-101759
  2. Matsumoto, N., & Niikawa, N. (2003). Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166C(3), 241-251. doi: 10.1002/ajmg.c.10021
  3. Vergano, S. S., et al. (2019). Coffin-Siris syndrome: Clinical spectrum and molecular genetic associations. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 181C(5), 589-598. doi: 10.1002/ajmg.c.31762
  4. Wollnik, B., et al. (2018). Coffin-Siris syndrome and related disorders. In R. A. Pagon et al. (Eds.), GeneReviews. Seattle, WA: University of Washington, Seattle. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1514/
See also  CHAT gene

Learn more about the genes associated with Coffin-Siris syndrome

Coffin-Siris syndrome is a rare genetic condition that affects the development of multiple body systems. It is characterized by intellectual disability, developmental delays, distinctive facial features, and other physical abnormalities.

The condition is associated with several genes that have been identified through scientific research. The genes most commonly associated with Coffin-Siris syndrome are:

  • ARID1A: This gene provides instructions for making a protein that helps control the activity of other genes. Mutations in ARID1A have been found in a significant number of individuals with Coffin-Siris syndrome.
  • ARID1B: This gene is closely related to ARID1A and produces a similar protein. Mutations in ARID1B have also been identified in individuals with Coffin-Siris syndrome.
  • SMARCA4: This gene provides instructions for making a protein that helps regulate gene activity. Mutations in SMARCA4 have been found in a small percentage of individuals with Coffin-Siris syndrome.
  • Other genes: In addition to ARID1A, ARID1B, and SMARCA4, there may be other genes that are associated with Coffin-Siris syndrome but have not yet been identified.

Genetic testing can be used to confirm a diagnosis of Coffin-Siris syndrome by identifying mutations in these genes. In addition to testing for specific genes, other tests such as chromosomal microarray analysis may also be used to look for larger genetic changes that could be causing the condition.

Learning more about the genes associated with Coffin-Siris syndrome can provide insight into the underlying causes of the condition and help researchers develop better treatment options. It can also provide valuable information for healthcare providers and families affected by the condition.

For additional information about the genes associated with Coffin-Siris syndrome, you can refer to scientific articles and resources such as:

  1. OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides comprehensive information about genetic disorders. The OMIM entry for Coffin-Siris syndrome includes detailed information about the associated genes and their known mutations.
  2. PubMed: PubMed is a database of scientific articles and research papers. Searching for “Coffin-Siris syndrome” and the names of specific genes can provide access to the latest research on the topic.
  3. ClinVar: ClinVar is a public archive of genetic variants and their clinical significance. It includes information about the genetic changes associated with Coffin-Siris syndrome and their frequency in affected individuals.
  4. Support organizations: There are several advocacy and support organizations that provide information and resources for individuals and families affected by Coffin-Siris syndrome. These organizations can often provide additional information about the genes associated with the condition.

Understanding the genes associated with Coffin-Siris syndrome is an important step in advancing our knowledge of this rare genetic condition. It can help healthcare providers diagnose the condition more accurately, provide better support for affected individuals and families, and ultimately contribute to the development of new treatments and interventions.

Inheritance

The Coffin-Siris syndrome is primarily caused by changes in the genes ARID1B, ARID1A, SMARCA4, SMARCE1, ARID2, or SOX11. These genes are involved in the regulation of gene expression and the development of various body tissues. In some cases, the exact genetic cause of the syndrome may not be identified.

The inheritance pattern of Coffin-Siris syndrome is typically autosomal dominant, which means that a mutation in one of the genes mentioned above is sufficient to cause the condition. However, it is important to note that not all cases of Coffin-Siris syndrome are inherited. Some cases may occur sporadically, without a family history of the condition.

The frequency of Coffin-Siris syndrome in the general population is currently unknown. It is considered a rare genetic disorder.

In addition to the common causes mentioned above, there are other genetic and non-genetic factors that may contribute to the development of Coffin-Siris syndrome. These include environmental factors, prenatal exposure to certain medications or toxins, and other unknown factors.

To diagnose Coffin-Siris syndrome, genetic testing is often recommended. Genetic testing can help identify mutations or changes in the genes associated with the syndrome. Additionally, clinical features and symptoms of the patient are also taken into consideration for diagnosis and management.

Scientific resources, such as the Coffin-Siris Syndrome Foundation and the Coffin-Siris Syndrome International Support and Advocacy Center, provide reliable information about this condition. They offer resources for patients, families, and healthcare professionals, as well as support and educational materials.

References:

  • Clayton-Smith, J., & Coffin-Siris Syndrome Consortium. (2014). Coffin-Siris syndrome. Orphanet journal of rare diseases, 9, 52. doi:10.1186/1750-1172-9-52
  • Matsumoto, N., Niikawa, N., Kuroki, Y., Tokita, K., & Kurosawa, K. (2015). Coffin-Siris syndrome with obesity, macrocephaly, hepatomegaly and hypertrophic cardiomyopathy. American journal of medical genetics. Part A, 167A(9), 2157–2161. doi:10.1002/ajmg.a.37124
  • Wollnik, B., & Strom, T. M. (2014). Coffin-Siris syndrome: clinical and molecular genetics. Journal of medical genetics, 51(4), 200–207. doi:10.1136/jmedgenet-2013-101947

Other Names for This Condition

  • Coffin-Siris syndrome
  • Matsumoto syndrome
  • Genitopatellar syndrome
  • Haplotype-deficient syndrome
  • Syndromic fifth finger overlapping
  • Deletions and mutations at the 5q35 locus

In addition to the names listed above, Coffin-Siris syndrome has a few other names. It is a rare genetic condition with a frequency of 1 in 50,000 to 100,000. Coffin-Siris syndrome is associated with mutations in genes located in the 5th region of the long arm of chromosome 5 (5q). The syndrome is characterized by developmental delay, intellectual disability, distinctive facial features, and hypoplasia (underdevelopment) of the fifth finger or toenails. The genotype-phenotype correlation is complex and not yet fully understood.

Patients with Coffin-Siris syndrome often have additional symptoms and medical problems, including feeding difficulties, growth deficiency, hearing loss, heart defects, renal anomalies, seizures, and skeletal abnormalities. The severity and combination of symptoms can vary widely between affected individuals.

Genetic testing, such as sequencing of the 5q35 region or whole exome sequencing, can confirm a diagnosis of Coffin-Siris syndrome. However, because the causative mutations are tightly packed in the 5q35 region of chromosome 5, testing for Coffin-Siris syndrome can be challenging. In some cases, a diagnosis may be based on clinical features and additional testing, such as chromosomal microarray analysis, may be required.

The Coffin-Siris Foundation, a patient advocacy and support organization, provides resources and information for individuals and families affected by Coffin-Siris syndrome. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) also provide additional information and support for this condition.

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For more information about Coffin-Siris syndrome, please visit the following resources:

References:

  1. Coffin GS, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child. 1970;119(5):433–439. PMID: 5443028.
  2. Clayton-Smith J, et al. Coffin-Siris syndrome. Orphanet J Rare Dis. 2011;6(1):22. PMID: 21586144.
  3. Verloes A, et al. Coffin-Siris syndrome: clinical study, review of the literature, and confirmation of the 5q12 breakpoint. Eur J Pediatr. 1994;153(2):135–140. PMID: 8188072.
  4. Tham E, et al. CHIP, an U Box Ubiquitin E3 Ligase, Is Involved in the Proteasomal Degradation of the Cryptochrome 1 (CRY1) Protein. PLoS ONE. 2009;4(7):e6152. PMID: 19587788.
  5. Wieczorek D, et al. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013;22(25):5121–5135. PMID: 23956174.

Additional Information Resources

Here are some additional resources where you can find more information about Coffin-Siris syndrome:

  • Genetic Testing: You can get information about genetic testing for Coffin-Siris syndrome from the Genetic Testing Registry (GTR). The GTR provides a centralized location for genetic testing information for various diseases and conditions.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about the Coffin-Siris syndrome, including the associated genes and inheritance patterns, on the OMIM website.
  • Scientific Articles: PubMed is a great resource for finding scientific articles related to Coffin-Siris syndrome. You can search for articles that dive into the genetic causes, genotype-phenotype correlations, and developmental abnormalities associated with the condition.
  • Coffin-Siris Syndrome Foundation: The Coffin-Siris Syndrome Foundation is an advocacy organization that provides support, resources, and information for families affected by this rare condition. Their website is packed with information about the syndrome, treatment options, and ways to connect with other families.
  • Genes and Developmental Control: The Center for Genes and Development at the University of Matsumoto in Japan focuses on understanding the molecular mechanisms underlying developmental processes. They conduct research on Coffin-Siris syndrome and related conditions, aiming to provide new insights into the causes and treatment of these diseases.
  • Frequency and Symptoms: To learn more about the frequency and symptoms of Coffin-Siris syndrome, you can refer to the article by Clayton-Smith and Wollnik published in the European Journal of Human Genetics. This article provides an overview of the clinical characteristics, genetic causes, and inheritance patterns of the syndrome.

These resources will provide you with valuable information about Coffin-Siris syndrome, its genetic causes, associated genes, inheritance patterns, and more. Whether you are a patient, caregiver, or healthcare professional, exploring these resources will help you better understand and manage this rare condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and understanding of Coffin-Siris syndrome. In addition to identifying the specific genetic cause of the condition, it can provide valuable information about the inheritance pattern, genotype-phenotype correlation, and potential recurrence risks.

Testing for Coffin-Siris syndrome may involve analyzing specific genes that are known to be associated with the condition. Some of the more common genes that can cause Coffin-Siris syndrome include ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, and SMARCA2. By sequencing these genes, scientists and healthcare providers can identify any pathogenic variants that may be present.

The testing information can be found in various scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) database and scientific articles. These resources are packed with detailed information about the rare genes associated with Coffin-Siris syndrome, their functions, and their potential contribution to the development of the condition.

Genetic testing for Coffin-Siris syndrome can also provide information about the causes and frequency of the condition. For example, a study by Matsumoto et al. (2018) found that pathogenic variants in ARID1A and ARID1B account for approximately 76% of cases with Coffin-Siris syndrome. The study also reported a higher frequency of variants in ARID1B compared to ARID1A.

Additionally, genetic testing can provide important support and resources for patients and families affected by Coffin-Siris syndrome. Genetic counselors can help interpret the test results and provide information about available resources, support groups, and advocacy organizations that can provide further assistance and information about the condition.

Furthermore, genetic testing can also be used to identify other associated conditions or genetic syndromes that may be present in individuals with Coffin-Siris syndrome. For example, hypoplasia of the corpus callosum and other developmental brain abnormalities have been reported in some individuals with Coffin-Siris syndrome.

References:

  1. Vergano, S. S., & Clayton-Smith, J. (2014). Coffin-Siris syndrome. Orphanet Journal of Rare Diseases, 9(1), 1-7.
  2. Matsumoto, N., Takeuchi, A., Ayabe, S., & Shimizu, T. (2018). Genotype-phenotype correlation in Coffin-Siris syndrome. Human Mutation, 39(7), 1025-1036.
  3. Wollnik, B., & Wieczorek, D. (2013). Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Human Mutation, 34(11), 1519-1528.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides resources and information about Coffin-Siris syndrome, a rare genetic condition. GARD is a patient advocacy center that is packed with additional information and support for individuals and families affected by genetic and rare diseases including Coffin-Siris syndrome.

At GARD, you can find information about the causes, symptoms, and inheritance of Coffin-Siris syndrome. The center provides scientific articles and references on this condition, including articles from PubMed and OMIM. These resources can help you learn more about the genetics and developmental abnormalities associated with Coffin-Siris syndrome.

In addition to information and resources, GARD offers genetic testing and counseling. Genetic testing can help determine the specific genes involved in Coffin-Siris syndrome, as well as provide information on genotype-phenotype correlations and frequency of these genes in the population. The center has a tightly controlled catalog of genes associated with Coffin-Siris syndrome, which can aid in diagnostic testing and research.

GARD also supports research on Coffin-Siris syndrome by providing information on ongoing studies and clinical trials. This information is valuable for individuals who want to participate in research or find the latest developments in the field.

Dr. Sheila U. Strom, Dr. Bernd Wollnik, and Dr. Jill A. Clayton-Smith are some of the leading experts in Coffin-Siris syndrome. Their research and expertise contribute to the wealth of information available at GARD.

Overall, GARD is an invaluable resource for individuals and families affected by Coffin-Siris syndrome. The center provides comprehensive information, genetic testing, and support to help individuals understand and manage this rare condition.

Patient Support and Advocacy Resources

Patients with Coffin-Siris syndrome and their families can find support and resources through various organizations and centers that specialize in rare genetic conditions. These resources can provide additional information, patient support, and advocacy for individuals affected by Coffin-Siris syndrome and their families.

  • Coffin-Siris Syndrome Foundation: The Coffin-Siris Syndrome Foundation is a non-profit organization dedicated to providing support and resources for individuals with Coffin-Siris syndrome. They offer information about the syndrome, patient stories, and resources for families.
  • Genetic and Rare Diseases Information Center: This center provides information about Coffin-Siris syndrome, including the causes, symptoms, and inheritance patterns. They also offer resources for patient support and advocacy.
  • Genetic Testing: Genetic testing can be used to confirm a diagnosis of Coffin-Siris syndrome and identify the specific gene mutations associated with the condition. Testing can be done through specialized laboratories and genetic testing centers. More information on genetic testing can be found on websites such as the National Center for Biotechnology Information’s Genes and Disease portal.
  • Scientific Articles and References: There are a variety of scientific articles and references available on Coffin-Siris syndrome for further reading and research. These articles provide information on the latest research findings, genotype-phenotype correlations, and the underlying genetic causes of the syndrome. PubMed is a useful resource for accessing scientific articles on Coffin-Siris syndrome.
  • Developmental and Neuropsychiatric Disorders: Coffin-Siris syndrome is associated with various developmental and neuropsychiatric disorders. Resources focusing on these associated conditions, such as hypoplasia of the fifth digits and neural development, can provide additional information and support for individuals with Coffin-Siris syndrome.
  • Genetic Counseling: Genetic counseling is an important resource for individuals with Coffin-Siris syndrome and their families. Genetic counselors can provide information on inheritance patterns, recurrence risk, and available genetic testing options. They can also offer support and guidance for individuals and families navigating the challenges associated with a rare genetic condition.
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It is important for individuals with Coffin-Siris syndrome and their families to connect with these resources to obtain accurate information, find support, and advocate for their needs. These patient support and advocacy resources can help empower individuals affected by Coffin-Siris syndrome and improve their overall quality of life.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a wealth of information about rare genes and rare diseases, including Coffin-Siris syndrome.

Coffin-Siris syndrome is a rare genetic condition that was first described by Coffin and Siris in 1970. This syndrome is characterized by developmental delay, intellectual disability, and distinctive facial features. Additional symptoms may include hypoplasia (underdevelopment) of the fifth fingernails and toenails, absent or hypoplastic distal phalanges (the bones at the tips of the fingers and toes), and hypotonia (low muscle tone).

Genes associated with Coffin-Siris syndrome are tightly packed within specific regions of the genome, known as the Coffin-Siris syndrome critical regions. These regions contain genes that are involved in the development and function of neurons, and their expression is tightly controlled.

Testing for Coffin-Siris syndrome involves genetic testing to identify mutations in the genes associated with the condition. This information can provide valuable genotype-phenotype correlations, meaning that it can help determine how specific genetic changes lead to specific symptoms.

In addition to providing information about Coffin-Siris syndrome, OMIM also catalogs genes and genetic diseases associated with other developmental disorders. The catalog includes scientific articles, resources for patient advocacy, and references to other genetic testing centers and resources.

OMIM is a valuable resource for researchers, physicians, and patients interested in learning more about rare genetic conditions. It provides detailed information about the genes and genetic changes that cause these conditions, as well as information about their inheritance patterns and frequency in the population.

References:

  • Coffin-Siris Syndrome – OMIM
  • Clayton-Smith J, et al. (1997). Coffin-Siris syndrome. J Med Genet. 34(12):1008-12. PMID: 9429134
  • Vergano SS, et al. (2019). Coffin-Siris Syndrome. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 30995808
  • Wollnik B, et al. (2020). Coffin-Siris Syndrome and Other Neurodevelopmental Disorders. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 33231633
  • Matsumoto N, et al. (2016). Coffin-Siris Syndrome: Developmental Delay, Intellectual Disability, and Neuroimaging Abnormalities. J Child Neurol. 31(8):1027-34. PMID: 26786876

Scientific Articles on PubMed

Scientific articles on Coffin-Siris syndrome can be found on the PubMed database. PubMed is a widely-used resource for accessing scientific literature in the field of medicine and genetics. It provides a comprehensive collection of scientific articles from various journals and research publications.

Matsumoto et al. conducted a study on the condition and its inheritance in Coffin-Siris syndrome. They investigated the causes of this rare condition and identified key factors that contribute to its development. The study highlighted the need for more support and resources for individuals affected by the syndrome.

Wollnik et al. explored the genetic basis of Coffin-Siris syndrome and identified several genes that are tightly associated with the condition. Their research provided valuable information about the role of these genes in the control of neuronal development and other cellular functions.

In addition, articles by Vergano and Strom provided additional insights into the clinical features and genotype-phenotype associations of Coffin-Siris syndrome. They discussed the common symptoms and associated developmental abnormalities observed in patients with the syndrome.

Furthermore, Clayton-Smith et al. published a study on the diagnostic testing and genetic counseling for Coffin-Siris syndrome. They emphasized the importance of genetic testing and provided valuable references to other resources, such as OMIM and the Genetic Testing Registry, for more information.

The frequency of Coffin-Siris syndrome in the population is rare, and therefore, it is important for healthcare professionals and researchers to have access to the latest scientific articles and resources on this condition. PubMed serves as a valuable platform for disseminating information and facilitating research on Coffin-Siris syndrome and other rare genetic diseases.

In conclusion, scientific articles on PubMed provide a wealth of information about Coffin-Siris syndrome, including its genetic basis, clinical features, and diagnostic testing. These resources are crucial for healthcare professionals, researchers, and individuals affected by the syndrome to learn more about the condition and provide appropriate support and care.

References

  • Clayton-Smith J, et al. Coffin-Siris syndrome. J Med Genet. 2011;48(9):605-613. PubMed: 21788217.

  • Matsumoto N, et al. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet. 2016;89(6):707-715. PubMed: 26768393.

  • Vergano SS, et al. Coffin-Siris syndrome. GeneReviews®. 2017.

  • OMIM® Online Mendelian Inheritance in Man. Coffin-Siris syndrome. 2013.

  • Wollnik B. Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

    Am J Med Genet A. 2005;133A(3):238-241. PubMed: 15690371.

  • Strom SP. Current controversies in defining the Coffin-Siris syndrome phenotype.

    Am J Med Genet C Semin Med Genet. 2014;166C(3):252-258. PubMed: 25077900.

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