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Article

Short Stature Associated with a Novel Heterozygous Mutation in theInsulin-Like Growth Factor 1Gene

29 Jul 2010

Abstract excerpt

CONTEXT: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference. OBJECTIVE: The objective of the study was to investigate the clinical features of heterozygous carriers of a novel mutation in the IGF1 gene in comparison with noncarriers in a short family and to...

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Identifiers

PMID: 20668042
DOI: 10.1210/jc.2010-0511

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