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Article

Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.

Clinical endocrinology - 1 May 2015

Juanes Matias, Guercio Gabriela, Marino Roxana, Berensztein Esperanza, Warman Diana Mónica, Ciaccio Marta, Gil Silvia, Bailez Marcela, Rivarola Marco A, Belgorosky Alicia

Abstract excerpt

BACKGROUND: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. OBJECTIVE: To identify and characterize IGF1R gene variations in a cohort of 28 Argentinean children suspected of having IGF-1 insensitivity, who were selected on the basis of the association of pre/postnatal growth failure and microcephaly. METHODS: The coding sequence...

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PMID: 25040157
DOI: 10.1111/cen.12555

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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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