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Article

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.

Clinical endocrinology - 1 Feb 2013

Labarta José I, Barrio Eva, Audí Laura, Fernández-Cancio Mónica, Andaluz Pilar, de Arriba Antonio, Puga Beatriz, Calvo María T, Mayayo Esteban, Carrascosa Antonio, Ferrández-Longás Angel

Abstract excerpt

CONTEXT: IGF-I is essential for normal human growth and mediates its effects through the IGF1R. IGF1R mutations have been associated with varying degrees of intrauterine and postnatal growth retardation. OBJECTIVE: To identify IGF1R gene mutations in a short-statured family with intrauterine growth retardation and microcephaly. METHODS: Direct DNA sequencing was used to identify IGF1R mutations. Multiplex...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22738321
DOI: 10.1111/j.1365-2265.2012.04481.x

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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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