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Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.

Diabetes - 1 Mar 2022

Saint-Martin Cécile, Bouvet Delphine, Bastide Mathilda, Bellanné-Chantelot Christine

Abstract excerpt

Gene panel sequencing (NGS) offers the possibility of analyzing rare forms of monogenic diabetes (MgD). To that end, 18 genes were analyzed in 1,676 patients referred for maturity-onset diabetes of the young genetic testing. Among the 307 patients with a molecular diagnosis of MgD, 55 (17.9%) had a mutation in a gene associated with a genetic syndrome. Of the patients with mutations, 8% (n = 25) carried the...

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Identifiers

PMID: 34556497
DOI: 10.2337/db21-0520

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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