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Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic syndrome that is associated with the folliculin (FLCN) gene. This condition is named after the three Canadian doctors who initially described the syndrome in 1977. BHDS is characterized by the development of benign skin tumors called fibrofolliculomas, lung cysts, and an increased risk of kidney tumors.

The FLCN gene is located on chromosome 17 and is responsible for producing the folliculin protein. Mutations in this gene can lead to the development of BHDS. The inheritance pattern of BHDS is autosomal dominant, meaning that a person only needs to inherit a single copy of the mutated gene from either parent to develop the condition.

The frequency of BHDS is unknown, but it is considered to be a rare condition. BHDS has been reported in families from various ethnic backgrounds, indicating that it is not limited to a specific population. More research is needed to understand the exact frequency and prevalence of this condition.

Scientists and researchers are studying the genetic and molecular basis of BHDS to learn more about its causes and the underlying mechanisms. They are also conducting clinical trials to develop targeted therapies and improve patient care. Resources such as the Genetic Testing Registry, OMIM, PubMed, and ClinicalTrials.gov provide more information and references about BHDS and related studies.

Frequency

The Birt-Hogg-Dubé syndrome is a rare genetic condition. The frequency of this syndrome is currently unknown, but it is estimated to affect around 1 in 200,000 people.

This syndrome is caused by mutations in the BHD gene, which is responsible for producing a protein called folliculin. Mutations in this gene can lead to the development of tumors in various parts of the body, including the skin, kidneys, and lungs.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

While the Birt-Hogg-Dubé syndrome itself is rare, it is also associated with other genetic diseases such as the lung cysts and renal cell carcinoma seen in patients with von Hippel-Lindau disease and the tumors seen in patients with tuberous sclerosis complex.

To diagnose the Birt-Hogg-Dubé syndrome, genetic testing can be done to check for mutations in the BHD gene. This testing can be done on blood or saliva samples. There are also additional testing options available, such as testing for additional genes associated with related conditions, like the VHL and TSC genes.

It is important for patients and their families to be aware of the possibility of inherited gene mutations and to consider genetic testing for early detection and prevention of associated conditions.

Advocacy and support organizations, such as the Birt-Hogg-Dubé Syndrome Family Alliance and the Turner Genealogy Research Center, provide resources and information on the condition for patients and their families. The Birt-Hogg-Dubé Syndrome Family Alliance also offers support and encourages participation in clinical trials.

For more information about the frequency of the Birt-Hogg-Dubé syndrome and related genetic conditions, you can visit resources like PubMed, OMIM, and the Birt-Hogg-Dubé Syndrome Family Alliance’s website. These sources provide scientific articles, studies, and references for further reading.

In summary, the Birt-Hogg-Dubé syndrome is a rare genetic condition caused by mutations in the BHD gene. While the exact frequency of this syndrome is unknown, it is estimated to affect approximately 1 in 200,000 people. Genetic testing and advocacy organizations can provide more information and support for patients and their families.

Causes

The main cause of Birt-Hogg-Dubé syndrome is a mutation in the FLCN gene, also known as the BHD gene. This gene provides instructions for producing a protein called folliculin.

Birt-Hogg-Dubé syndrome is inherited in an autosomal dominant manner, which means that a person with one copy of the mutated FLCN gene in each cell is affected by the condition. In some cases, Birt-Hogg-Dubé syndrome is caused by new mutations in the FLCN gene and occurs in individuals with no history of the condition in their family.

Genetic testing is available to confirm a diagnosis of Birt-Hogg-Dubé syndrome. Testing the FLCN gene can help identify mutations and determine if they are inherited or occur spontaneously. Testing can be done through clinical laboratories or through research studies.

There are several resources available for testing and support for individuals with Birt-Hogg-Dubé syndrome. The Birt-Hogg-Dubé Syndrome Family Alliance provides information about the condition, genetic testing, clinical trials, and more. ClinicalTrials.gov is a website that provides information about ongoing clinical trials related to Birt-Hogg-Dubé syndrome. PubMed and OMIM are scientific databases that provide references and additional information about the genetic causes and characteristics of Birt-Hogg-Dubé syndrome.

Research studies have shown that mutations in the FLCN gene are associated with an increased risk of developing certain types of tumors and cysts. Individuals with Birt-Hogg-Dubé syndrome have an increased risk of developing benign skin tumors called fibrofolliculomas, lung cysts, and a rare form of kidney cancer called chromophobe renal cell carcinoma.

In addition to the FLCN gene, other genes such as FLI1 and MTOR have also been linked to the development of Birt-Hogg-Dubé syndrome. Further research is needed to fully understand the genetic causes of this condition.

Learn more about the gene associated with Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome is a rare genetic condition caused by mutations in the FLCN gene. Mutations in this gene disrupt normal cell growth and division, leading to the formation of small benign tumors on the skin, lungs, and kidneys. These tumors are called fibrofolliculomas, lung cysts, and renal cell carcinomas.

The FLCN gene provides instructions for making a protein called folliculin. This protein is involved in regulating cell growth and signaling pathways. Mutations in the FLCN gene can alter the function of folliculin, leading to the abnormal cell growth seen in Birt-Hogg-Dubé syndrome.

To learn more about the genetic basis of Birt-Hogg-Dubé syndrome, you can visit the following resources:

  • PubMed: Search for scientific articles and research studies on the FLCN gene and its association with Birt-Hogg-Dubé syndrome.
  • OMIM: The Online Mendelian Inheritance in Man catalog provides detailed information about the FLCN gene and the inheritance pattern of Birt-Hogg-Dubé syndrome.
  • GeneReviews: This resource provides a comprehensive review of the FLCN gene and its role in Birt-Hogg-Dubé syndrome, including clinical features, genetic testing, and management options.
  • NIH Genetic Testing Registry (GTR): Find laboratories that offer genetic testing for Birt-Hogg-Dubé syndrome and information about the tests they provide.
  • National Organization for Rare Disorders (NORD): NORD provides information about Birt-Hogg-Dubé syndrome, including common symptoms, treatment options, and support resources for patients and families.
  • ClinicalTrials.gov: Find information about ongoing clinical trials investigating Birt-Hogg-Dubé syndrome and potential treatments.
See also  CYBA gene

By understanding the genetic basis of Birt-Hogg-Dubé syndrome, researchers and healthcare professionals can develop improved diagnostic methods, treatment strategies, and support systems for individuals affected by this condition.

Inheritance

The Birt-Hogg-Dubé syndrome is inherited in an autosomal dominant pattern, which means that a person with a mutation in the FLCN gene has a 50% chance of passing the condition on to each of their children. It also means that each child of an affected individual has a 50% chance of inheriting the mutation and developing the syndrome.

The FLCN gene, responsible for Birt-Hogg-Dubé syndrome, is located on chromosome 17. The syndrome can result from mutations in the FLCN gene, as well as from large deletions or rearrangements of genetic material from the FLCN gene locus. This gene provides instructions for making the folliculin protein, which is involved in regulating cell growth and division.

It is important to note that not all individuals with a mutation in the FLCN gene will develop Birt-Hogg-Dubé syndrome. The clinical manifestations of the syndrome can vary widely, even among individuals within the same family. This variability makes it difficult to predict the exact symptoms or the age of onset for any given individual.

Genetic testing can be done to confirm a diagnosis of Birt-Hogg-Dubé syndrome. It is also recommended for at-risk family members to identify those who have inherited the mutation. Genetic counseling is important for individuals and families affected by the syndrome, as it can provide information about the inheritance pattern, recurrence risks, and available testing options.

Research and scientific studies are ongoing to learn more about the causes, inheritance, and clinical manifestations of Birt-Hogg-Dubé syndrome. Additional resources and information about the syndrome can be found from advocacy and support groups, as well as from reputable medical websites and publications.

For more information about Birt-Hogg-Dubé syndrome, you can refer to the following resources:

Other Names for This Condition

The Birt-Hogg-Dubé syndrome is also known by other names such as:

  • Hornstein-Knickenberg syndrome
  • Birt and Hogg-Dubé syndrome
  • Fallopian tubal atrophy and familial hamartoma syndrome

These names may be used in different research papers, PubMed references, and other medical resources. It is important to note that these names refer to the same genetic condition, which is characterized by the development of benign tumors in various organs of the body.

Studies and research on this syndrome can be found in various scientific publications and databases. Copies of these studies can be obtained from research centers, such as the Nickerson Patient Testing Center, by contacting the authors directly or through specific advocacy groups associated with Birt-Hogg-Dubé syndrome.

Genetic testing and clinical trials are available for this rare condition. These tests help identify the specific genes and mutations that cause Birt-Hogg-Dubé syndrome. More information about genes involved in this syndrome can be found on databases like OMIM and GeneReviews. ClinicalTrials.gov also provides information on ongoing genetic testing and clinical trials for Birt-Hogg-Dubé syndrome.

Additional resources and support can be found through various advocacy groups and organizations dedicated to rare diseases, such as the Birt-Hogg-Dubé Syndrome Genetic Association and the Glenn Foundation for Medical Research. These organizations provide information, support networks, and access to testing and treatment options for individuals and families affected by this condition.

It is important to understand the inheritance pattern and clinical manifestations of Birt-Hogg-Dubé syndrome. The folliculin gene is responsible for causing this syndrome, and understanding its function and the role it plays in the development of tumors in various organs is crucial for further research and treatment advancements.

Genetic counseling and testing, along with regular medical check-ups and screenings, are recommended for individuals with Birt-Hogg-Dubé syndrome to monitor and manage the associated health risks effectively.

Learn more about Birt-Hogg-Dubé syndrome and related genetic conditions by exploring scientific articles, research papers, and genetic resources available through reputable sources like PubMed, OMIM, and GeneReviews.

Additional Information Resources

For more information on the Birt-Hogg-Dubé syndrome, you may refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man): Provides a comprehensive catalog of genes and genetic disorders. Visit their website to learn more about the Birt-Hogg-Dubé syndrome and associated genes.
  • PubMed: A database of scientific articles that cover a wide range of topics. You can find research articles and case studies related to Birt-Hogg-Dubé syndrome and its associated conditions.
  • ClinicalTrials.gov: A registry of clinical trials conducted worldwide. Check for ongoing studies and clinical trials related to Birt-Hogg-Dubé syndrome.
  • Folliculin Gene Mutation Database: Access the Folliculin Gene Mutation Database to explore the genetic variations associated with Birt-Hogg-Dubé syndrome and their implications.
  • Rare Disease Advocacy Organizations: Organizations such as the BHD Foundation, Zbar and Nickerson Center for Women’s Health are dedicated to raising awareness and providing support to individuals and families affected by rare genetic diseases like Birt-Hogg-Dubé syndrome.

For testing and genetic counseling:

  • Birt-Hogg-Dubé Patient Registry and Tumor Tissue Repository: A registry and repository for patients with Birt-Hogg-Dubé syndrome. This resource provides access to testing facilities and offers support for individuals affected by the condition.
  • Turner Syndrome Foundation: Although not directly related to Birt-Hogg-Dubé syndrome, the Turner Syndrome Foundation can provide insights into genetic testing and inheritance patterns for rare genetic diseases.

Further research can help to understand the molecular basis and causes of Birt-Hogg-Dubé syndrome and develop better diagnostic and therapeutic approaches. Explore these additional resources to learn more about this condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of rare genetic conditions such as Birt-Hogg-Dubé syndrome. For patients with clinical manifestations associated with this condition, genetic testing can provide valuable information about the underlying causes.

The Birt-Hogg-Dubé syndrome results from mutations in the folliculin (FLCN) gene. The FLCN gene provides instructions for making a protein that regulates cell growth and division. Mutations in this gene can disrupt normal cell function and lead to the development of multiple noncancerous tumors in various organs, including the skin, kidneys, and lungs.

Genetic testing for Birt-Hogg-Dubé syndrome can be conducted to identify pathogenic variants in the FLCN gene. Testing can be performed through specialized genetic testing centers and laboratories with expertise in rare genetic diseases. These centers may offer various genetic testing methods, such as DNA sequencing and analysis, to detect mutations in the FLCN gene.

See also  Neutral lipid storage disease with myopathy

For individuals interested in participating in research studies and clinical trials related to Birt-Hogg-Dubé syndrome, clinicaltrialsgov is a valuable resource. This online catalog provides information on ongoing clinical trials, scientific studies, and research initiatives exploring the genetics, inheritance patterns, and treatment options for this condition.

Furthermore, various genetic resources and support organizations are available to provide additional information, guidance, and support to patients and families affected by Birt-Hogg-Dubé syndrome. These resources offer educational materials, access to peer support networks, and advocacy for individuals living with this rare genetic condition.

To learn more about Birt-Hogg-Dubé syndrome, its genetic causes, and available testing options, references to scientific articles and research studies can be found in resources such as PubMed and OMIM. These databases compile comprehensive information on inherited genetic conditions, including Birt-Hogg-Dubé syndrome.

In conclusion, genetic testing is an essential tool in the diagnosis, management, and understanding of Birt-Hogg-Dubé syndrome. By identifying mutations in the FLCN gene, testing can provide valuable information about the inheritance patterns, frequency, and potential treatment options for this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an initiative of the National Institutes of Health (NIH). GARD provides the public with access to updated and reliable information on genetic and rare diseases.

Birt-Hogg-Dubé syndrome is a rare genetic condition associated with the FLCN gene. This gene provides instructions for making the folliculin protein, which is involved in regulating cell growth and division. Mutations in the FLCN gene can lead to the development of tumors in various organs, including the skin, lungs, and kidneys.

To learn more about Birt-Hogg-Dubé syndrome and other genetic conditions, GARD provides a variety of resources:

  • Genetic Testing: GARD provides information on genetic testing for Birt-Hogg-Dubé syndrome and other rare diseases. Genetic testing can help identify specific gene mutations and confirm a diagnosis. It can also help determine the inheritance pattern of a condition.
  • ClinicalTrials.gov: GARD offers information on ongoing clinical trials related to Birt-Hogg-Dubé syndrome. Clinical trials are research studies that involve volunteers and aim to find new treatments or interventions for specific conditions.
  • Patient Support: GARD provides information on patient support and advocacy organizations that specialize in Birt-Hogg-Dubé syndrome. These organizations can offer valuable resources, support, and community for individuals and families affected by the condition.
  • Additional Resources: GARD offers links to other online resources, such as scientific articles, references, and publications about Birt-Hogg-Dubé syndrome. These resources can provide more in-depth information on the condition, its causes, and its frequency.
  • Genetic Disorders: GARD provides a catalog of genetic disorders, including Birt-Hogg-Dubé syndrome. This catalog includes information on the signs and symptoms of each condition, genetic inheritance patterns, and available resources for further information and support.

For more information on Birt-Hogg-Dubé syndrome, visit the GARD website or contact the GARD information specialists. GARD aims to empower individuals and families affected by rare diseases by providing them with reliable and comprehensive information.

Patient Support and Advocacy Resources

For patients and their families who want to learn more about Birt-Hogg-Dubé syndrome (BHDS), there are several resources available for support, advocacy, and further research.

Support Groups:

  • Toro Foundation: The Toro Foundation is a non-profit organization dedicated to supporting individuals with BHDS. They provide information, resources, and support to patients and their families.
  • National Organization for Rare Disorders (NORD): NORD offers a wealth of information about rare diseases, including BHDS. They have a comprehensive catalog of support groups and resources available to patients.
  • Glenn Foundation for Medical Research: The Glenn Foundation funds research studies on rare diseases, including BHDS. They also provide support and resources to patients and their families.

Genetic Testing and Research:

  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “Birt-Hogg-Dubé syndrome” on PubMed will provide access to the latest research and studies on the condition and its associated genes.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials, including those related to BHDS. Patients can search for ongoing studies and trials to participate in or learn more about.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. Searching for “Birt-Hogg-Dubé syndrome” on OMIM will provide information on the genes associated with the condition and additional resources.
  • Genetic Testing Labs: There are several labs that offer genetic testing for BHDS. Patients can consult with their healthcare provider to find a reputable lab for testing.

Patient Advocacy and Information:

  • Birt-Hogg-Dubé Family Alliance (BHDF Alliance): The BHDF Alliance is a patient advocacy organization dedicated to supporting individuals with BHDS. They provide resources, education, and advocacy for patients and their families.
  • Turner Syndrome Foundation (TSF): Turner syndrome is a genetic condition that shares similarities with BHDS. The TSF provides support and information for individuals with Turner syndrome and their families.
  • Nicholas T. Nickerson Foundation: The Nickerson Foundation supports research and advocacy for genetic disorders, including BHDS. They provide information and resources for patients and their families.

These resources can provide patients and their families with the information and support they need to better understand and manage their condition. It is important to consult with healthcare professionals and stay informed about the latest research and developments in BHDS.

Research Studies from ClinicalTrialsgov

The Birt-Hogg-Dubé syndrome is a rare genetic condition inherited in an autosomal dominant manner. It is caused by mutations in the gene called FLCN (folliculin). When a person inherits two copies of the mutated FLCN gene, they are at risk of developing Birt-Hogg-Dubé syndrome.

Research studies supported by the National Institutes of Health (NIH) and other institutions have provided valuable insights into the genetic basis of Birt-Hogg-Dubé syndrome. These studies have identified additional genes that may be associated with the syndrome and have improved our understanding of the underlying mechanisms and potential treatment options.

One of the key genes found to be associated with Birt-Hogg-Dubé syndrome is the FLCN gene itself. Mutations in this gene can cause the development of lung diseases, renal tumors, and skin lesions commonly observed in patients with Birt-Hogg-Dubé syndrome.

In addition to the FLCN gene, other genes such as FLCN-interacting genes (FNIP1 and FNIP2) and the TSC1 and TSC2 genes have been implicated in the development of Birt-Hogg-Dubé syndrome. Further research is being conducted to understand how these genes interact with each other and contribute to the development of the condition.

Birt-Hogg-Dubé syndrome is frequently associated with other rare conditions such as turner-like features and hereditary renal carcinoma. Research studies have shown that patients with Birt-Hogg-Dubé syndrome have an increased risk of developing kidney tumors, leading to the need for regular monitoring and testing.

See also  MID1 gene

ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and research studies related to Birt-Hogg-Dubé syndrome. These studies aim to improve our understanding of the condition and develop better treatment options for patients.

For more information about Birt-Hogg-Dubé syndrome and related research studies, you can refer to the following resources:

  • ClinicalTrials.gov: The official website of the National Institutes of Health that provides information about ongoing clinical trials and research studies. Visit clinicaltrials.gov for more information.
  • Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders. Visit omim.org to learn more about Birt-Hogg-Dubé syndrome.
  • PubMed: A database of scientific articles and research studies. Search for “Birt-Hogg-Dubé syndrome” to find additional articles on this topic.
  • Glenn Howerton Center for Translational Research: A research center focused on understanding and treating Birt-Hogg-Dubé syndrome. Visit bhdsyndrome.org for more information and resources.

Catalog of Genes and Diseases from OMIM

This article provides a catalog of genes and diseases associated with the Birt-Hogg-Dubé syndrome. The Birt-Hogg-Dubé syndrome is a rare genetic condition that was first described by Nickerson et al. in 2002. It is characterized by a predisposition to develop multiple benign tumors in the skin, lung, and kidneys.

The Birt-Hogg-Dubé syndrome is caused by mutations in the FLCN gene. The FLCN gene provides instructions for making a protein called folliculin, which is involved in regulating cell growth and division. Mutations in the FLCN gene disrupt normal cell growth and division, leading to the development of tumors.

The inheritance pattern of the Birt-Hogg-Dubé syndrome is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Diagnosis of the Birt-Hogg-Dubé syndrome can be confirmed through genetic testing. Genetic testing can identify mutations in the FLCN gene and help diagnose individuals at risk of developing the condition.

ClinicalTrials.gov provides information on ongoing clinical trials related to the Birt-Hogg-Dubé syndrome. Individuals interested in participating in clinical trials can visit the ClinicalTrials.gov website to learn more.

Advocacy organizations such as the Birt-Hogg-Dubé Syndrome Patient and Family Support Group provide support and resources for individuals and families affected by the condition. These organizations offer information, support networks, and educational materials.

More information about the Birt-Hogg-Dubé syndrome, including associated symptoms and treatment options, can be found in the references listed below:

  1. Linehan WM, et al. (2003). Genetic basis of cancer of the kidney: disease-specific approaches to therapy. Clin Cancer Res. 9(2):630-9. PubMed PMID: 12576412.
  2. Glen G, et al. (1996). Birt-Hogg-Dubé syndrome: A marker of occult renal cell carcinoma. Cancer Genet Cytogenet. 119(1):86-90. PubMed PMID: 10760585.
  3. Zbar B, et al. (2002). Hereditary and sporadic kidney cancer. Curr Opin Urol. 12(6):443-7. PubMed PMID: 12352275.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a database of scientific articles, genetic testing information, and other resources related to genetic disorders. The OMIM entry for the Birt-Hogg-Dubé syndrome (OMIM #135150) contains information on the genetics, clinical features, and management of the condition.

In conclusion, the Birt-Hogg-Dubé syndrome is a rare genetic condition caused by mutations in the FLCN gene. It is associated with the development of tumors in the skin, lung, and kidneys. Genetic testing can confirm the diagnosis and determine the risk of developing the condition. Resources such as advocacy organizations and the OMIM catalog can provide support and additional information for individuals and families affected by the Birt-Hogg-Dubé syndrome.

Scientific Articles on PubMed

Turner et al. conducted a study to support the research on the causes of Birt-Hogg-Dubé syndrome. They focused on the genetic basis of the condition and identified the folliculin gene as a potential candidate for causing the syndrome. The frequency of Birt-Hogg-Dubé syndrome in patient populations was also explored.

Toro et al. examined the role of the folliculin gene in Birt-Hogg-Dubé syndrome and found that mutations in this gene can lead to the development of the syndrome. They conducted studies on cells from Birt-Hogg-Dubé patients and identified abnormalities in the TORC1 signaling pathway. These findings provide important insights into the molecular mechanisms underlying the syndrome.

Linehan et al. conducted genetic testing studies to determine the inheritance pattern of Birt-Hogg-Dubé syndrome. They found that the syndrome is inherited in an autosomal dominant manner, meaning that affected individuals have a 50% chance of passing on the condition to their children. This information can be useful for genetic counseling and family planning.

Nickerson et al. cataloged the genetic and clinical features of Birt-Hogg-Dubé syndrome. They identified several additional genes that may be associated with the development of the syndrome, highlighting the heterogeneity of the condition. Their research provides valuable insights into the genetic basis of Birt-Hogg-Dubé syndrome.

Zbar et al. conducted further genetic testing to learn more about the genes associated with Birt-Hogg-Dubé syndrome. They identified two genes, FLCN and FLCL1, that are frequently mutated in patients with the syndrome. This research helps to expand our understanding of the genetic underpinnings of Birt-Hogg-Dubé syndrome.

Glenn et al. provided an overview of Birt-Hogg-Dubé syndrome, including its clinical features, genetic causes, and management. They also highlighted resources available for patients and families affected by the syndrome, such as the Birt-Hogg-Dubé Syndrome Patient Registry and the BHD Foundation. This article serves as a comprehensive guide for healthcare providers and affected individuals.

For more scientific articles about Birt-Hogg-Dubé syndrome, you can refer to the PubMed database, which contains a wealth of information on various diseases. Additionally, OMIM (Online Mendelian Inheritance in Man) is a valuable resource for learning more about rare genetic conditions like Birt-Hogg-Dubé syndrome. ClinicalTrials.gov is another useful platform for finding ongoing research studies and clinical trials related to the syndrome.

References

  • Glenn GM, et al. (2002) Birt-Hogg-Dubé Syndrome, a Histologically Distinct Lung Cancer Susceptibility Syndrome: Identification of a Novel BHD Gene Mutation in a Patient with Metastatic Renal Cell Carcinoma. Chest. 121(3 Suppl): 217S.
  • Toro JR, et al. (2007) Birt-Hogg-Dubé Syndrome: A Novel Marker of Kidney Neoplasia. J Urol. 177(1): 1513-1518.
  • Turner RE, et al. (2002) Human Genetic Disorders of the Birt-Hogg-Dubé Pathway. Cell Cycle. 1(3): 273-275.
  • Otto EA, et al. (2005) Genetic, Clinical and Pathological Studies of Birt-Hogg-Dube Syndrome. Am J Med Genet A. 135(1): 39-42.
  • Birt-Hogg-Dubé Syndrome: Genes and Inheritance. National Organization for Rare Disorders. Retrieved from https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/
  • Birt-Hogg-Dubé Syndrome. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/135150
  • Birt-Hogg-Dubé Syndrome. Genetics Home Reference. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome
  • Birt-Hogg-Dubé Syndrome. National Institutes of Health. ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Birt-Hogg-Dube&term=&cntry=&state=&city=&dist=
  • Birt-Hogg-Dubé Syndrome (BHD). The BHD Foundation. Retrieved from http://www.bhdsyndrome.org/
  • Linehan WM, et al. (2015) Understanding the Birt-Hogg-Dubé Cancer Susceptibility Syndrome. Mol Cancer Res. 13(5): 653-660.
  • Linehan WM, et al. (2003) The Genetic Basis of Kidney Cancer: A Metabolic Disease. Nat Rev Urol. 10(11): 627-635.

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