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Diagnostic and Mutational Spectrum of Progressive Osseous Heteroplasia (POH) and Other Forms of GNAS-based Heterotopic Ossification

Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resis...

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Détails bibliographiques
Auteurs principaux: Adegbite, N. S., Xu, M., Kaplan, F. S., Shore, E. M., Pignolo, R. J.
Format: Artigo
Langue:Inglês
Publié: 2008
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564798/
https://ncbi.nlm.nih.gov/pubmed/18553568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32346
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