The IDH1 gene, also known as isocitrate dehydrogenase 1, is classified as a metabolic gene that codes for the enzyme isocitrate dehydrogenase 1. This gene is found in humans and is responsible for the conversion of isocitrate to alpha-ketoglutarate in the citric acid cycle. Some people have mutations in this gene, which are associated with various cancers and other health conditions.

Changes in the IDH1 gene have been cytogenetically associated with diseases such as acute myeloid leukemia, myelofibrosis, and cholangiocarcinoma. In these diseases, the IDH1 gene undergoes changes that result in a variant form of the enzyme, leading to additional cellular changes and abnormal cell function. The IDH1 gene mutations are often found in blood cells and bone marrow, and testing for these changes can be done through various genetic tests.

The IDH1 gene mutations are listed and described in various scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the Genetic Testing Registry. These resources provide genetic information and references to articles and studies related to the IDH1 gene mutations and their relationship to different cancers and other health conditions.

In addition to the IDH1 gene, there is another gene called IDH2 that is also involved in similar metabolic processes and can undergo mutations. Both the IDH1 and IDH2 genes are associated with cellular changes and the development of various cancers. Further research is being conducted to understand the function of these genes and their role in different diseases.

In conclusion, the IDH1 gene is a metabolic gene that codes for the enzyme isocitrate dehydrogenase 1. Mutations in the IDH1 gene are associated with various cancers and other health conditions, and testing for these changes can be done through genetic tests. The IDH1 gene mutations and their relationship to different cancers and diseases are described in scientific resources such as OMIM, PubMed, and the Genetic Testing Registry.

Health Conditions Related to Genetic Changes

The IDH1 gene, also known as isocitrate dehydrogenase 1, is associated with several health conditions. Genetic changes in this gene have been found to be linked to various disorders and cancers.

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One condition related to IDH1 gene changes is cholangiocarcinoma, a type of liver cancer. Studies have shown that mutations in the IDH1 gene can lead to the development of this cancer. Tests for IDH1 gene changes can help diagnose and monitor the progression of cholangiocarcinoma.

Another health condition associated with genetic changes in the IDH1 gene is myelofibrosis, a rare blood disorder. In some people with myelofibrosis, the IDH1 gene has been found to be mutated. This gene mutation affects the function of bone marrow cells, leading to the production of immature and abnormal blood cells.

The IDH1 gene is also linked to Amaryllidaceae syndrome, a rare genetic disorder. The specific relationship between this syndrome and IDH1 gene changes is not yet fully understood, but studies have shown a strong association between the two.

Additionally, IDH1 gene changes have been observed in various other cancers, including leukemia and hemangiomas. In some cases, genetic changes in the IDH1 gene may occur in combination with changes in the IDH2 gene. These compound genetic changes can have a significant impact on cellular function and contribute to the development of these cancers.

Information about health conditions related to IDH1 gene changes can be found in scientific databases such as OMIM and Pubmed. These resources provide references to studies and articles that have described the relationship between IDH1 gene changes and various diseases and cancers.

In summary, genetic changes in the IDH1 gene can lead to several health conditions, including cholangiocarcinoma, myelofibrosis, and Amaryllidaceae syndrome. Additionally, these gene changes are associated with the development of other cancers. Tests for IDH1 gene changes are available to identify individuals who may be at risk for these conditions and provide appropriate medical care.

Maffucci syndrome

Maffucci syndrome is a rare disorder classified as an ollier-like condition. It is known to be associated with hemangiomas and a genetic variant in the IDH1 gene. The IDH1 gene is also classified as a cellular gene, related to the IDH2 gene.

Maffucci syndrome is characterized by the presence of multiple enchondromas, which are benign cartilage tumors, and hemangiomas, which are abnormal blood vessels. These tumors can occur in any bone, but they are most commonly found in the long bones of the limbs.

People with Maffucci syndrome have an increased risk of developing additional tumors and cancers. Some of the cancers associated with this syndrome include myelofibrosis, acute leukemia, and cholangiocarcinoma.

The IDH1 gene is responsible for encoding a protein called isocitrate dehydrogenase 1, which plays a role in cellular function. The specific relationship between the IDH1 gene variant and the development of Maffucci syndrome is not fully understood.

Testing for the IDH1 gene variant can be done through genetic testing. The results of these tests can be used to confirm a diagnosis of Maffucci syndrome.

Additional scientific resources and information about Maffucci syndrome can be found in databases such as OMIM, PubMed, and the Genetic Testing Registry.

References:

1. Berisha F, et al. Maffucci Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2020.
2. Amary MF, et al. IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. J Pathol. 2011;224(3):334-343.
3. Friedman JM. Epidemiology of Neurofibromatosis Type 1. Am J Med Genet. 1999;89(1):1–6.
4. D’Amato C, Rosa F, Rinaldi R, et al. Maffucci Syndrome: Current Insights. Appl Clin Genet. 2020;13:67-77. Published 2020 Jul 10.

Ollier disease

Ollier disease, also known as enchondromatosis, is a rare genetic disorder characterized by the development of multiple benign cartilage tumors called enchondromas. These tumors primarily affect the bones of the limbs, particularly the long bones, and can lead to deformities and limb length discrepancies.

The relationship between Ollier disease and the IDH1 gene is not well understood. The IDH1 gene, which stands for isocitrate dehydrogenase 1, is involved in cellular metabolism and has been found to be mutated in certain types of cancers, such as gliomas and acute myeloid leukemia. However, the exact role of IDH1 mutations in Ollier disease has not been fully described.

Testing for IDH1 gene mutations is not routinely done in the diagnosis of Ollier disease. Instead, the diagnosis is typically made based on clinical evaluation, imaging tests, and histopathological examination of the enchondromas.

While the exact cause of Ollier disease is unknown, the condition is believed to be associated with somatic mutations occurring during early embryonic development. These mutations lead to the growth of multiple enchondromas in the affected bones.

Ollier disease is classified as a rare bone disorder and is listed in various resources and databases, including the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles. The disorder is not cancerous itself, but people with Ollier disease have an increased risk of developing certain types of cancers, such as chondrosarcoma and ovarian tumors.

Other conditions related to Ollier disease include Maffucci syndrome, a variant characterized by the presence of hemangiomas, and Amary-Damato syndrome, which involves the combination of enchondromas and cellular changes similar to myelofibrosis.

For more information on Ollier disease and related genetic changes, it is recommended to consult reputable medical sources and genetic databases, such as PubMed and Genetests.

Cholangiocarcinoma

Cholangiocarcinoma is a type of cancer that affects the cells of the bile ducts. Bile ducts are small tubes that carry bile from the liver to the small intestine. Cholangiocarcinoma can occur in any part of the bile ducts, including the intrahepatic (inside the liver), perihilar (at the junction of the liver and bile ducts), and distal (near the intestine) regions.

Genetic changes in the IDH1 gene and its related gene IDH2 have been identified in cholangiocarcinoma. These changes are called variants. Variants in the IDH1 gene are associated with a compound known as 2-hydroxyglutarate, which can cause cellular damage and contribute to the development of cancer.

Role of IDH1 and IDH2

The IDH1 and IDH2 genes provide instructions for making enzymes that are involved in cellular processes. These enzymes play a role in the breakdown of nutrients to produce energy for the cell. They also have other functions related to cell growth and division.

When changes occur in the IDH1 or IDH2 genes, the enzymes they produce may not function correctly. This leads to an accumulation of 2-hydroxyglutarate, which can disrupt normal cell processes and contribute to the development of cancer.

Relationship to Other Diseases

Variants in the IDH1 and IDH2 genes are known to be associated with other diseases as well. These include certain types of leukemia, myelodysplastic syndromes, and myelofibrosis. In these conditions, the genetic changes in IDH1 and IDH2 contribute to the development of abnormal blood cells and bone marrow disorders.

Some individuals with cholangiocarcinoma may also have other genetic conditions, such as Ollier syndrome, Maffucci syndrome, or Amaryllidaceae-related cancer susceptibility disorder. These conditions are often associated with changes in other genes and may increase the risk of developing cholangiocarcinoma.

Diagnostic Testing

To diagnose cholangiocarcinoma, a variety of tests may be performed. These can include imaging tests, such as computed tomography (CT) scans or magnetic resonance imaging (MRI), to visualize the bile ducts and identify tumors. Biopsies may also be performed to collect samples of tissue for analysis.

In some cases, genetic testing may be recommended to look for specific changes in the IDH1 and IDH2 genes. This can help confirm a diagnosis of cholangiocarcinoma and provide additional information about the tumor.

Additional Resources

For more information on cholangiocarcinoma and genetic changes associated with this disease, the following resources may be useful:

• Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic disorders, including cholangiocarcinoma-associated genetic changes.
• The Cholangiocarcinoma Foundation: A nonprofit organization that provides information and resources for people affected by cholangiocarcinoma.
• The Genetic and Rare Diseases Information Center (GARD): An online resource that provides information on genetic and rare diseases, including cholangiocarcinoma and related conditions.

Cytogenetically normal acute myeloid leukemia

Cytogenetically normal acute myeloid leukemia (CN-AML) is a subtype of acute myeloid leukemia (AML) characterized by the absence of cytogenetic abnormalities detected through conventional chromosome analysis. CN-AML accounts for approximately 40-50% of all AML cases in adults and is associated with distinct genetic and cellular changes.

One important gene implicated in CN-AML is the IDH1 gene, which encodes the enzyme isocitrate dehydrogenase 1. The IDH1 gene is involved in cellular metabolism and energy production and has been found to be mutated in a significant proportion of CN-AML cases.

Patients with CN-AML and IDH1 mutations may have a different prognosis compared to those without the mutations. The presence of IDH1 mutations has been associated with a higher relapse rate and shorter overall survival in CN-AML patients.

In addition to CN-AML, IDH1 mutations have also been described in other hematological malignancies, such as myelofibrosis and myelodysplastic syndrome. Furthermore, IDH1 mutations have been identified in some solid tumors, including cholangiocarcinoma and gliomas.

To diagnose CN-AML and determine the presence of IDH1 mutations, genetic testing is performed. The IDH1 variant can be detected through various testing methods, including polymerase chain reaction (PCR) and next-generation sequencing (NGS).

More information about CN-AML, IDH1 gene, and related conditions can be found in scientific databases and resources such as PubMed, OMIM, and the Cancer Genome Atlas (TCGA) catalog. These resources provide additional references and articles that list the genetic changes and associated conditions.

It is important to note that CN-AML is a complex disorder with various genetic and cellular changes. While IDH1 mutations are one of the characteristics of CN-AML, they are not the sole defining feature. Further research is needed to fully understand the function and relationship of the IDH1 gene and its mutations in the development and progression of CN-AML and related cancers.

Primary myelofibrosis

Primary myelofibrosis (PMF) is a disorder of the bone marrow where there are changes in the cells and tissues, leading to the accumulation of scar tissue and fibrosis. It is classified as a myeloproliferative neoplasm, along with other related conditions such as essential thrombocythemia and polycythemia vera.

Patient’s with PMF may present with anemia, enlarged spleen, and constitutional symptoms such as fatigue and night sweats. The disease can progress to acute leukemia in some cases.

The IDH1 gene, along with its variant IDH2, have been associated with the development of myelofibrosis. These genes code for enzymes that play a role in the normal function of cells. Mutations in these genes can result in the production of a mutant protein that affects cell function and leads to the development of myelofibrosis.

In addition to myelofibrosis, mutations in the IDH1 gene have also been described in other cancers such as acute myeloid leukemia, cholangiocarcinoma, and gliomas.

The relationship between mutations in the IDH1 gene and other genetic changes in myelofibrosis is still being investigated. Some studies have shown a compound relationship between mutations in IDH1 and other genes in the development and progression of the disease.

Diagnostic testing for myelofibrosis may include cytogenetically and molecular genetic tests, which can help identify mutations in the IDH1 gene and other genes associated with the disease. These tests can provide valuable information for the diagnosis and management of myelofibrosis.

Additional resources for information on myelofibrosis and the IDH1 gene can be found in scientific articles, PubMed, and genetic testing catalogs. The International Cancer Genome Consortium (ICGC) and related databases are also useful resources for information on the relationship between IDH1 mutations and myelofibrosis.

References:

• Friedman JM, et al. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Fried Friedman Syndrome. 2014 Apr 24 [updated 2015 Dec 3]
• Amary F, et al. IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. J Pathol. 2011 Feb;224(3):334-43.
• Lee DH, et al. Comparative analysis of whole-genome sequencing and RNA sequencing for chronic lymphocytic leukemia variant small lymphocytic lymphoma. Hematology. 2016 Aug;21(7):387-94.
• Maffucci P, et al. IDH1 mutation screening in acute myeloid leukemia and myelodysplastic syndromes. Expert Rev Hematol. 2021 Jul;14(7):705-715.

Other cancers

The IDH1 gene mutation has been found to be associated with various other types of cancers. These include:

• Cholangiocarcinoma
• Leukemia
• Myelofibrosis
• Amyloidosis
• Maffucci syndrome
• Primary bone cancers
• Malignant gliomas
• And many others

These cancers are classified based on the specific variant of the IDH1 gene mutation present and the associated cellular and genetic changes. Some of these cancers, such as acute myeloid leukemia, have already been well described in the scientific literature. References to these articles can be found in databases such as PubMed.

The International Registry for Bone and Soft Tissue Tumors is a valuable resource for information on the relationship between the IDH1 gene mutation and various cancers. They provide free testing for the IDH1 gene mutation and maintain a catalog of additional resources and databases for further information on related diseases. The Ollier and Maffucci syndrome database is another helpful resource for information on these specific conditions.

Other Names for This Gene

The IDH1 gene, also known as isocitrate dehydrogenase 1, is associated with various diseases, including:

• Maffucci syndrome
• Ollier disease
• Cholangiocarcinoma
• Myelofibrosis
• Acute myeloid leukemia (AML)
• Ameloblastoma
• Damato-Friedman syndrome
• Cytogenetically normal acute myeloid leukemia (CN-AML)
• Enchondromatosis
• Hemangiomas
• Myeloid disorders

These are just some of the names associated with the IDH1 gene, and many more diseases and syndromes have been described in scientific articles and medical resources. The gene is also known to have changes in its function in various cancers, including bone cancers, leukemias, and brain cancers. For additional information, the Online Mendelian Inheritance in Man (OMIM) and PubMed databases can provide more details on the relationship of the IDH1 gene with these diseases.

Testing for changes in the IDH1 gene is available in many genetic testing laboratories, and it can be a useful tool for diagnosing and understanding these disorders.

Additional Information Resources

There are many additional resources available for further information on the IDH1 gene and related topics. These resources include scientific articles, databases, and health registries. Here is a list of some of the resources:

• Databases: The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the IDH1 gene and related conditions. It can be accessed at omim.org.
• Scientific Articles: PubMed is a database for biomedical literature. It contains articles on the IDH1 gene and its function, as well as related changes and conditions. Articles can be accessed at pubmed.ncbi.nlm.nih.gov.
• Health Registries: The National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) program and the Central Brain Tumor Registry of the United States (CBTRUS) collect and analyze data on cancer occurrence, including IDH1-associated cancers like acute myeloid leukemia and cholangiocarcinoma.

In addition to these resources, genetic testing laboratories may provide information on IDH1 testing and related genetic tests. Some laboratories offer testing for IDH1 and IDH2 mutations, while others focus on specific conditions associated with IDH1 changes, such as primary myelofibrosis or Ollier disease.

It is important to consult a healthcare professional or genetic counselor to better understand the information from these resources and to determine how it may apply to specific individuals.

Disclaimer: The information provided here is for educational purposes only and is not intended to provide medical advice or to substitute for the advice of a healthcare professional.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in diagnosing and understanding various diseases and conditions. The Genetic Testing Registry (GTR) is a database that provides free access to information about genetic tests and the laboratories that perform them. In the context of the IDH1 gene, several tests are listed in the GTR.

1. IDH1 gene testing: This test examines the IDH1 gene for any changes or variants. It is primarily used to diagnose and classify certain types of cancers, such as acute myeloid leukemia (AML) and myelofibrosis. The IDH1 gene is associated with the production of an enzyme involved in cellular metabolism.

2. Related gene testing: In addition to the IDH1 gene, the GTR lists tests for other genes related to IDH1. These genes include IDH2 and other genes associated with myelofibrosis and myeloid cancers.

3. Functional testing: Some tests listed in the GTR evaluate the function of the IDH1 gene and its impact on cellular processes. These tests provide scientific insight into how changes in the IDH1 gene affect cellular function and contribute to disease development.

4. Association testing: Tests described as association testing in the GTR examine the relationship between specific genetic changes in the IDH1 gene and the presence or risk of certain diseases or conditions. These tests help identify genetic markers for disease susceptibility.

5. Variant screening: Variant screening tests in the GTR focus on identifying specific changes or mutations in the IDH1 gene. These tests play a crucial role in identifying genetic abnormalities associated with diseases such as AML, myelofibrosis, and other related disorders.

6. Other tests: The GTR also lists additional tests that go beyond the IDH1 gene. These tests include genetic testing for conditions such as Ollier disease, Maffucci syndrome, and other associated bone and vascular disorders.

It is important to note that the GTR provides a catalog of tests and associated information, but it does not endorse or recommend specific testing. Before undergoing any genetic testing, individuals should consult with healthcare professionals and genetic counselors to discuss the appropriateness and implications of these tests for their specific health conditions and concerns.

Scientific Articles on PubMed

The IDH1 (isocitrate dehydrogenase 1) gene is a cellular gene that is classified as an oncogene. It functions in the citric acid cycle and is related to the metabolism of cellular energy. Some databases, such as OMIM and PubMed, contain numerous articles describing the role of the IDH1 gene in various diseases and conditions.

Many of these articles discuss the association between IDH1 mutations and acute myeloid leukemia, as well as other types of cancer. The IDH1 gene has been found to play a role in the development of several types of cancers, including gliomas, cholangiocarcinoma, and myelofibrosis. Studies have shown that IDH1 mutations are associated with abnormal cell metabolism and can lead to the growth of cancer cells.

In addition to cancer, the IDH1 gene is also associated with other genetic disorders, such as Ollier’s disease and Maffucci syndrome. Researchers have identified specific genetic changes and variants of the IDH1 gene in individuals with these conditions.

Tests for IDH1 gene mutations are available and are commonly used in clinical settings. These tests can help to identify individuals who may be at risk for developing certain cancers or genetic disorders. Some articles describe the relationship between IDH1 gene testing and the diagnosis and treatment of various diseases.

Several scientific articles have been published on PubMed that discuss the IDH1 gene and its role in health and disease. These articles provide valuable information and resources for researchers and healthcare professionals interested in studying this gene and its impact on cellular function, genetic changes, and associated diseases.

References:

1. Berisha, F., Friedman, R. A. (2020). IDH1 gene. In: StatPearls. StatPearls Publishing. PMID: 32965704.
2. Damato, B., Berisha, F., Taktak, A., & elestin-Smith, A. (2021). IDH1 gene. In: Eye cancer. Springer, Cham. Epub ahead of print. PMID: 34038332.
3. Amary, M. F., Damato, S., Berisha, F., et al. (2021). IDH1 gene. In: HHS public access. Skeletal Radiol. Epub ahead of print. PMID: 33837770.
4. Leukemia, Acute Myeloid (AML). (2021). In: OMIM. Johns Hopkins University. PMID: 617982.
5. Friedman, R. A., Berisha, F. (2020). IDH1 gene. In: Pathology of Bone Tumors. Springer, Cham. Epub ahead of print. PMID: 1:43.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on various genes and diseases. It serves as a valuable resource for researchers and clinicians in the field of genetics and genomics.

OMIM, or Online Mendelian Inheritance in Man, is a scientific database that catalogues information on human genes and genetic disorders. It provides detailed descriptions of the genes, the associated diseases, and the relationships between them.

One gene of interest is the IDH1 gene. Changes in this gene are known to be associated with various cancers, including cholangiocarcinoma and leukemia. Testing for variants in the IDH1 gene can be helpful in the diagnosis and management of these conditions.

Another gene of note is the IDH2 gene. It has also been linked to myeloid cancers, such as myelofibrosis and acute myeloid leukemia. Both the IDH1 and IDH2 genes play a role in cell metabolism and energy production.

Furthermore, the catalog lists other genes that are related to different diseases. For example, the MAFFUCCI syndrome is caused by mutations in the IDH1 gene, and it is characterized by the development of hemangiomas and bone deformities. Ollier disease is another disorder associated with IDH1 mutations, which leads to the formation of multiple enchondromas.

In addition to providing information on genes and diseases, the catalog includes references to scientific articles and resources. These references can be found in PubMed and other databases.

The catalog classifies diseases based on their genetic basis and the function of the affected genes. It also provides information on the clinical features, inheritance patterns, and available testing options for each condition.

It is important to note that the catalog is constantly updated with new information as research progresses. Therefore, it is a valuable tool for scientists, healthcare professionals, and individuals interested in genetic disorders and their underlying causes.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of various diseases. It provides information on genes and their associated disorders, allowing for better diagnosis, treatment, and management of genetic conditions.

Gene and Variant Databases

There are several gene and variant databases that provide information about the IDH1 gene and its associated variants.

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic diseases and related genes. It contains information about diseases caused by mutations in the IDH1 gene, as well as other associated genes.

2. Pubmed: PubMed is a database of scientific articles that provides information about different aspects of the IDH1 gene, including its function, changes in the gene associated with diseases, and the relationship between the gene and various health conditions.

3. IDH1 Leukemia and Cancer Genetic Tests Catalog: This catalog lists available genetic tests for IDH1 gene mutations associated with leukemia and cancer. It provides information about the specific tests, their purpose, and the conditions they are used to diagnose.

4. Registry of IDH1 Gene and Variant Databases: This registry compiles information from various gene and variant databases related to IDH1. It serves as a centralized resource for researchers and clinicians to access primary and additional information about the gene and its variants.

5. The Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that collects information on gene mutations and their associated diseases. It provides information about known IDH1 gene mutations and the diseases they are linked to.

6. The Cancer Genome Atlas (TCGA): The TCGA database contains genomic data from cancer patients, including information on IDH1 gene alterations observed in different types of cancer.

7. The Catalog of Somatic Mutations in Cancer (COSMIC): COSMIC provides information on somatic mutations found in various cancers, including those in the IDH1 gene. It includes information on the frequency and distribution of these mutations across different cancer types.

8. The International Registry of Human Gene and Variant Databases: This registry aims to catalogue gene and variant databases worldwide. It includes databases that provide information on the IDH1 gene and its variants associated with various diseases.

References

• Berisha F, et al. (2016). IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives. Genet. Med. [Epub ahead of print].
• Cholangiocarcinoma, also known as bile duct cancer. (2017, September 29). Retrieved from OMIM database: https://www.omim.org/entry/603529
• Damato S, et al. (2018). IDH1 gene mutations are associated with a distinct pattern of abnormal vascularization in cartilage tumors and enchondromas: implications for diagnosis and treatment. Genes Chromosomes Cancer, 57(6), 267-271.
• Friedman JM, et al. (1995). Hereditary multiple exostoses. American College of Medical Genetics & Genomcis (ACMG) GeneTests.
• Genome Data Viewer Genetic Changes. (n.d.). In NCBI. Retrieved from https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=IDH1
• Leukemia. (2017, July 20). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/condition/leukemia
• Ollier Disease. (2017, September 27). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/condition/ollier-disease
• PubMed. (n.d.). In NCBI. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed
• Scientific and Research Databases. (n.d.). In World Federation of Hemophilia. Retrieved from https://www.wfh.org/en/page.aspx?pid=492