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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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Publicado no: | Appl Clin Genet |
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Main Authors: | , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Dove Medical Press
2015
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Assuntos: | |
Acesso em linha: | 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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