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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, including those with breakpoints proximal to the IGF1R gene. Clinical heterogeneity is characteristic for these mainly...

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PMID: 19955558
DOI: 10.1136/jmg.2009.070730

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