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Article

Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2015

Burkhardt Sebastian, Gesing Julia, Kapellen Thomas M, Kovacs Peter, Kratzsch Jürgen, Schlicke Marina, Stobbe Heike, Tönjes Anke, Klammt Jürgen, Pfäffle Roland

Abstract excerpt

Infants born small for gestational age (SGA) are at risk to develop metabolic complications. Insulin-like growth factor 1 (IGF-1) resistance due to IGF-1 receptor (IGF1R) mutations is a rare genetic condition that causes proportionate growth retardation. The contribution of an impaired IGF1R function to the development of comorbidities such as disturbed glucose homeostasis is not well understood. Genetic analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25153223
DOI: 10.1515/jpem-2014-0132

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