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Article

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.

European journal of human genetics : EJHG - 1 Nov 2013

Witsch Jens, Szafranski Przemyslaw, Chen Chun-An, Immken LaDonna, Simpson Patel Gayle, Hixson Patricia, Cheung Sau Wai, Stankiewicz Pawel, Schaaf Christian P

Abstract excerpt

Haploinsufficiency of the gene encoding the insulin-like growth factor 1 receptor (IGF1R), either caused by telomeric 15q26 deletions, or by heterozygous point mutations in IGF1R, segregate with short stature and various other phenotypes, including microcephaly and dysmorphic facial features. Psychomotor retardation and behavioral anomalies have been seen in some cases. Here we report small, intragenic deletions...

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Source

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Identifiers

PMID: 23486542
DOI: 10.1038/ejhg.2013.42
PMCID: PMC3798847

Genes

IGF1

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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