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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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Detalles Bibliográficos
Autores principales: Pignolo, Robert J, Ramaswamy, Girish, Fong, John T, Shore, Eileen M, Kaplan, Frederick S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321643/
https://www.ncbi.nlm.nih.gov/pubmed/25674011
http://dx.doi.org/10.2147/TACG.S51064