期刊
APPLICATION OF CLINICAL GENETICS
卷 8, 期 -, 页码 37-47出版社
DOVE MEDICAL PRESS LTD
DOI: 10.2147/TACG.S51064
关键词
progressive osseous heteroplasia; GNAS; heterotopic ossification
资金
- National Institutes of Health [R01-AR046831]
- Progressive Osseous Heteroplasia Association
- Italian POH Association
- International Fibrodysplasia Ossificans Progressiva Association
- University of Pennsylvania Center for Research in FOP and Related Disorders
- Isaac and Rose Nassau Professorship of Orthopaedic Molecular Medicine
- Cali/Weldon Professorship
- NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES [R01AR046831] Funding Source: NIH RePORTER
Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share common features of superficial ossification and association with inactivating mutations of GNAS. The genetics, diagnostic criteria, supporting clinical features, current management, and prognosis of POH are reviewed here, and emerging therapeutic strategies are discussed.
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