Genetic spectrum and treatment implications of maturity-onset diabetes of the young in the eastern Black Sea region of Türkiye: a combined adult and pediatric cohort of 296 patients with identification of rare and novel variants.

Abstract excerpt

BACKGROUND: Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous group of monogenic diabetes subtypes that is frequently misdiagnosed as type 1 or type 2 diabetes, and accurate genetic diagnosis enables a precision-medicine treatment approach. Regional Turkish data are limited, and previous Turkish series have been pediatric only. We characterized the genetic spectrum and...

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