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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Adegbite, N. S., Xu, M., Kaplan, F. S., Shore, E. M., Pignolo, R. J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2008
Schlagworte:
Online Zugang: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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