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Article

Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations.

Endocrine journal - 1 Jan 2011

Jiang Shan, Fang Qichen, Zhang Feng, Wan Hui, Zhang Rong, Wang Congrong, Bao Yuqian, Zhang Lei, Ma Xiaojing, Lu Junxi, Gao Fei, Xiang Kunsan, Jia Weiping

Abstract excerpt

Rabson-Mendenhall syndrome (RMS) is a rare disorder that presents as severe insulin resistance as a result of mutations present in the insulin receptor (INSR). A Chinese girl with RMS presented with profound diabetes, hyperinsulinemia, acanthosis nigricans, hirsutism, and abnormalities of teeth and nails. Direct sequencing of the patient's INSR detected heterozygote mutations at Arg83Gln (R83Q) and Ala1028Val...

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Identifiers

PMID: 21869538
DOI: 10.1507/endocrj.ej11-0032

Genes

INSR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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