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Article

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.

The Journal of clinical endocrinology and metabolism - 1 Jun 2010

Lebrun M, Richard N, Abeguilé G, David A, Coëslier Dieux A, Journel H, Lacombe D, Pinto G, Odent S, Salles J P, Taieb A, Gandon-Laloum S, Kottler M L

Abstract excerpt

CONTEXT: Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited. Progressive osseous heteroplasia (POH) is a rare disease of ectopic bone formation, and studies in different families have shown that POH is also caused by paternally inherited GNAS mutations. OBJECTIVE: Our purpose was to...

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Identifiers

PMID: 20427508
DOI: 10.1210/jc.2009-1451

Genes

GNAS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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