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Article

Genetic testing for maturity-onset diabetes of the young resulting in an upgraded genetic classification of an HNF1A gene variant: a case report.

Frontiers in endocrinology - 1 Jan 2023

Pollack-Schreiber Naama, Nwosu Benjamin Udoka, Salemi Parissa

Abstract excerpt

The frequent misdiagnosis of MODY (Maturity-Onset Diabetes of the Young) subtypes makes it necessary to clarify the clinical spectrum of the disease phenotypes in suspected subjects so that accurate diagnosis and management plans can be introduced as early as possible in the course of the disease. We report the case of a MODY subtype that was initially characterized as variant of uncertain significance (VUS) but...

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Identifiers

PMID: 37396173
DOI: 10.3389/fendo.2023.1173471
PMCID: PMC10313222

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