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hrp0097p1-434 | Diabetes and Insulin | ESPE2023

Monogenic Diabetes gene variants in 323 Greek MODY patients: Targeted NGS increases diagnostic accuracy and allows identification of rare MODY subtypes.

Mertzanian Anny , Sertedaki Amalia , Fylaktou Irene , Binou Maria , Dolianiti Maria , Nikolaides Nikolas , Anargyros Vasilakis Ioannis , Kanana-Gantenbein Christina

Introduction: Maturity Onset Diabetes of the Young (MODY) is clinically and genetically heterogeneous type of Monogenic Diabetes (MD) and to date 14 genes have been associated with different MODY subtypes. It is a rare disease characterized by early onset hyperglycemia, autosomal dominant inheritance, and defect in β cell insulin secretion, often misclassified as T1DM or T2DM.Materials and Methods: Genetic analysis ...

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Monogenic Diabetes gene variants in 323 Greek MODY patients: Targeted NGS increases diagnostic accuracy and allows identification of rare MODY subtypes.

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