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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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Detalhes bibliográficos
Publicado no:Appl Clin Genet
Main Authors: Pignolo, Robert J, Ramaswamy, Girish, Fong, John T, Shore, Eileen M, Kaplan, Frederick S
Formato: Artigo
Idioma:Inglês
Publicado em: Dove Medical Press 2015
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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