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Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene

1 Jan 2014

Abstract excerpt

Mutations in the insulin receptor gene cause the inherited insulin resistant syndromes Leprechaunism and Rabson–Mendenhall syndrome. These recessive conditions are characterized by intrauterine and post-natal growth restrictions, dysmorphic features, altered glucose homeostasis, and early demise. The insulin receptor gene (INSR) maps to the short arm of chromosome 19 and is composed of 22 exons. Here we optimize...

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PMID: 27896077
DOI: 10.1016/j.ymgmr.2013.12.006

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