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Article

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

European journal of human genetics : EJHG - 1 Apr 2015

Garin Intza, Mantovani Giovanna, Aguirre Urko, Barlier Anne, Brix Bettina, Elli Francesca M, Freson Kathleen, Grybek Virginie, Izzi Benedetta, Linglart Agnès, Perez de Nanclares Guiomar, Silve Caroline, Thiele Susanne, Werner Ralf

Abstract excerpt

Pseudohypoparathyroidism is a rare endocrine disorder that can be caused by genetic (mainly maternally inherited inactivating point mutations, although intragenic and gross deletions have rarely been reported) or epigenetic alterations at GNAS locus. Clinical and molecular characterization of thi...

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Source

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Identifiers

PMID: 25005735
DOI: 10.1038/ejhg.2014.127
PMCID: PMC4666570

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25005735-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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