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Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.

Clinical genetics - 1 Nov 2025

Di Pasquale Gabriele, Valsecchi Camilla, Smylie Giulia Marie, Salpietro Vincenzo, Zuccotti Gian Vincenzo, Delvecchio Maurizio, Mameli Chiara

Abstract excerpt

Monogenic Diabetes Mellitus refers to heterogeneous forms of diabetes mellitus (DM) caused by a single gene pathogenic variant. Neurodevelopmental disorders (NDDs) are clinically and molecularly heterogeneous conditions characterized by an impairment of the nervous system development and/or function, with a wide clinical spectrum of variability. Over the last decade, Next Generation Sequencing (NGS) approaches...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40970566
DOI: 10.1111/cge.70066
PMCID: PMC12501751

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