Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Milena Teles,
Augusto Santomauro Junior,
Aline Costa-Riquetto
et al.
Abstract:Aim: Our objective is to enhance the molecular diagnostic precision in a cohort of unresolved monogenic diabetes cases, previously investigated by next-generation sequencing target panel (tNGS), through comprehensive bidirectional phenotypic and genotypic reanalysis.
Methods: We analyzed molecular and clinical data from 128 unresolved cases referred between 2011 and 2019. These included 92 cases suspected of maturity-onset diabetes of the young (MODY), 12 of neonatal diabetes, 16 of familial partial lipodystr… Show more
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