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Article

Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.

The Journal of clinical endocrinology and metabolism - 1 Dec 2009

Ester Wietske A, van Duyvenvoorde Hermine A, de Wit Caroline C, Broekman Alexander J, Ruivenkamp Claudia A L, Govaerts Lutgarde C P, Wit Jan M, Hokken-Koelega Anita C S, Losekoot Monique

Abstract excerpt

CONTEXT: Small for gestational age (SGA)-born children comprise a heterogeneous group in which only few genetic causes have been identified. OBJECTIVE: To determine copy number variations in 18 growth-related genes in 100 SGA children with persistent short stature. METHODS: Copy number variations in 18 growth-related genes (SHOX, GH1, GHR, IGF1, IGF1R, IGF2, IGFBP1-6, NSD1, GRB10, STAT5B, ALS, SOCS2, and SOCS3)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19864454
DOI: 10.1210/jc.2008-1502

Genes

GHR
GRB10
IGF1
IGF2
IGFBP1
NSD1
SHOX
SOCS2
SOCS3

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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