Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature

Genetic diagnosis is vital in RMS; c.1123+2 T>C mutation of <i>INSR</i> causes pancreatic decline; current treatments show limited effectiveness.

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Publication Details

Journal
World Journal of Diabetes
Published
2026-01-14
DOI
https://doi.org/10.4239/wjd.v17.i1.113821
Primary Topic
Pancreatic function and diabetes
Type
article
Field-Weighted Citation Impact
0.00
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article

Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature

Xudong Su, Liao Lin, Long-Chao Gu, Juan Zheng et al.
World Journal of Diabetes
Pancreatic function and diabetes
article

Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature

Xudong Su, Liao Lin, Long-Chao Gu, Juan Zheng, Jie Bai, Rong-Rong Li, Kun Wang
article en

Abstract

Genetic diagnosis is vital in RMS; c.1123+2 T>C mutation of <i>INSR</i> causes pancreatic decline; current treatments show limited effectiveness.

World Journal of DiabetesVol. 17(1)
Shandong Provincial QianFoShan Hospital (CN), Liaocheng People's Hospital (CN), Shandong First Medical University (CN)
Good health and well-being
Openalex Percentile: Top 89%
Pancreatic function and diabetes
DOIOpen Access PDFOpenAlex
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