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Article

Phenotype-genotype correlation in a familial IGF1R microdeletion case.

Journal of medical genetics - 1 Jul 2010

Veenma D C M, Eussen H J, Govaerts L C P, de Kort S W K, Odink R J, Wouters C H, Hokken-Koelega A C S, de Klein A

Abstract excerpt

BACKGROUND: IGF1R (insulin-like growth factor 1 receptor) haploinsufficiency is a rare event causing difficulties in defining clear genotype-phenotype correlations, although short stature is its well established hallmark. Several pure 15q26 monosomies (n=22) have been described in the literature,...

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Identifiers

PMID: 19955558
DOI: 10.1136/jmg.2009.070730

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19955558-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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