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Article

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

The Journal of clinical endocrinology and metabolism - 1 Sept 2013

Richard Nicolas, Molin Arnaud, Coudray Nadia, Rault-Guillaume Pauline, Jüppner Harald, Kottler Marie-Laure

Abstract excerpt

CONTEXT: Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia (POH) when paternally inherited. Recent studies have suggested that mutations on the paternal, but not the maternal, GNAS allele could be associated with intrauterine growth retardation (IUGR) and thus small size for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Fetal Growth Retardation

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Infant, Small for Gestational Age

Share to Ossification, Heterotopic

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Source

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Identifiers

PMID: 23884777
DOI: 10.1210/jc.2013-1667
PMCID: PMC3763972

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.PMID 23884777Read ↗

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