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Article

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.

American journal of medical genetics. Part A - 15 Jul 2008

Adegbite N S, Xu M, Kaplan F S, Shore E M, Pignolo R J

Abstract excerpt

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 resistance, clinical manifestations that are also associated with GNAS inactivation. However, occasional patients with...

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Source

Open in PubMed Open full text

Identifiers

PMID: 18553568
DOI: 10.1002/ajmg.a.32346
PMCID: PMC2564798

Genes

GNAS
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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