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Article

Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.

Hormone research in paediatrics - 1 Jan 2020

Abali Zehra Yavas, De Franco Elisa, Karakilic Ozturan Esin, Poyrazoglu Sukran, Bundak Ruveyde, Bas Firdevs, Flanagan Sarah E, Darendeliler Feyza

Abstract excerpt

BACKGROUND: Diabetes diagnosed within the first 6 months of life is defined as neonatal diabetes mellitus (NDM). Mutations in the KCNJ11, ABCC8, and INS genes are the most common cause of permanent NDM. In populations with a high rate of consanguinity, Wolcott-Rallison syndrome caused by biallelic EIF2AK3 mutations is common. METHODS: We studied the clinical characteristics and underlying genetic cause of disease...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

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Share to Membrane Transport Proteins

Share to Potassium Channels, Inwardly Rectifying

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Identifiers

PMID: 33498041
DOI: 10.1159/000512247
PMCID: PMC7611806

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