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Progressive osseous heteroplasia: diagnosis, treatment, and prognosis
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 o...
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| 出版年: | Appl Clin Genet |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Dove Medical Press
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4321643/ https://ncbi.nlm.nih.gov/pubmed/25674011 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S51064 |
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