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Article

A mouse model for osseous heteroplasia.

PloS one - 1 Jan 2012

Cheeseman Michael T, Vowell Kate, Hough Tertius A, Jones Lynn, Pathak Paras, Tyrer Hayley E, Kelly Michelle, Cox Roger, Warren Madhuri V, Peters Jo

Abstract excerpt

GNAS/Gnas encodes G(s)α that is mainly biallelically expressed but shows imprinted expression in some tissues. In Albright Hereditary Osteodystrophy (AHO) heterozygous loss of function mutations of GNAS can result in ectopic ossification that tends to be superficial and attributable to haploinsufficiency of biallelically expressed G(s)α. Oed-Sml is a point missense mutation in exon 6 of the orthologous mouse...

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Source

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Identifiers

PMID: 23284784
DOI: 10.1371/journal.pone.0051835
PMCID: PMC3526487

Genes

GNAS

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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