Article

A Novel Mutation in the INSR Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient

2023-11-08

Abstract excerpt

Rabson-Mendenhall syndrome is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus. We are reporting the first case of Rabson-Mendenhall syndrome in a Paraguayan patient. The patient is a 5-year-old girl who presented with hypertrichosis, acanthosis nigricans, and nephrocalcinosis. Genetic testing by NGS revealed two pathogenic variants in exons...

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Literature Corpus work: 71f47397-584f-528c-bd3b-95a40586f0ff
DOI: 10.20944/preprints202311.0522.v1

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