Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome

Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS) are rare diseases caused by biallelic variants within the insulin receptor gene (INSR). Here, we report 2 cases: one with DS and the other with RMS. The case with DS presented with intrauterine growth retardation, nipple hypertrophy, clitoro...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Syndromol
Prif Awduron: Dagdeviren Cakir, Aydilek, Saidov, Said, Turan, Hande, Ceylaner, Serdar, Özer, Yavuz, Kutlu, Tufan, Ercan, Oya, Evliyaoglu, Olcay
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: S. Karger AG 2020
Pynciau:
Novel Insights from Clinical Practice
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7325121/
https://ncbi.nlm.nih.gov/pubmed/32655340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000506722
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