Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure.

Abstract excerpt

CONTEXT: Mutations in the IGF1R gene result in intrauterine growth retardation and postnatal growth failure. OBJECTIVE: The objective of this study was to describe the clinical features of subjects with a mutation in the IGF1R gene and to evaluate the molecular and functional characteristics of a novel IGF1R mutation. SUBJECTS: Three children with unexplained intrauterine growth retardation (birth weight <-1.5 SD...

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• DNA Mutational Analysis
• Fetal Growth Retardation
• Haploinsufficiency
• Infant