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Article

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

The Journal of clinical endocrinology and metabolism - 1 Mar 2008

Mariot Virginie, Maupetit-Méhouas Stéphanie, Sinding Christiane, Kottler Marie-Laure, Linglart Agnès

Abstract excerpt

CONTEXT: Pseudohypoparathyroidism (PHP) type Ia is a rare maternally transmitted disease due to maternal loss-of-function mutations of GNAS, the gene encoding Galphas, the alpha-stimulatory subunit of the G protein. Affected individuals display hormonal resistance (mainly PTH and TSH resistance) and Albright hereditary osteodystrophy. PHP type Ib (PHP-Ib), usually defined by isolated renal resistance to PTH and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epigenesis, Genetic

Share to Fibrous Dysplasia, Polyostotic

Share to GTP-Binding Protein alpha Subunits, Gs

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Source

Identifiers

PMID: 18182455
DOI: 10.1210/jc.2007-0927

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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A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.PMID 18182455Read ↗

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Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders.Semantic proximity Read ↗

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Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.Semantic proximity Read ↗

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