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Article

Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.

Endocrine development - 1 Jan 2013

Walenkamp M J E, Losekoot M, Wit J M

Abstract excerpt

Molecular defects of the insulin-like growth factor 1 gene (IGF1) are rare in the human. Only three homozygous and two families with heterozygous mutations of the IGF1 gene have been described, resulting in a variable degree of intrauterine and postnatal growth retardation, microcephaly, developmental delay and deafness. Detailed genetic analysis and functional experiments have shown that IGF-1 plays a key role...

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Share to Birth Weight
Share to Fetal Growth Retardation
Share to Growth Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Insulin-Like Growth Factor I

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Share to Receptor, IGF Type 1

Source

Identifiers

PMID: 23392101
DOI: 10.1159/000342841

Genes

IGF1

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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