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Article

INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.

Medicine - 9 Dec 2022

Yu Lu, Yu Fang, Ma Zongrui, Lu Huilin, Luo Jian, Sun Ting, Liu Qin, Gan Shenglian

Abstract excerpt

RATIONALE: Severe insulin receptor gene (INSR)-related insulin resistance syndromes (SIR) include Donohue syndrome (DS), Rabson-Mendenhall syndrome (RMS), and type A insulin resistance. The incidence of DS is about 1 in 4 million births. We identified novel INSR mutations (c.2246delG and c.2646 + 5G > A) in a patient with SIR, which expanded the variant spectrum and helped to improve the understanding of the...

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Identifiers

PMID: 36626508
DOI: 10.1097/MD.0000000000032266
PMCID: PMC9750703

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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