Open access
Sep 2026
Comprehensive assessment of the genotype-phenotype spectrum and treatment for monoallelic insulin receptoropathy in a cohort of 505 people
Abstract Background Insulin signalling is mediated by the INSR -encoded receptor tyrosine kinase. Biallelic INSR variants cause the most severe insulin resistance (IR), whereas heterozygous mutations cause less rare but still severe IR. Dominantly inherited IR has been attributed to dominant negative action of intracel...
Rebecca Brown, Jing-Xiang Xu, J. Luan et al.
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