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Transient neonatal diabetes mellitus is a rare disease usually associated with chromosome 6 abnormalities. Mutations of the genes encoding the potassium channel are rarely associated with these transitional forms. Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Citation

T Kamoun, I Chabchoub, S Ben Ameur, S Kmiha, H Aloulou, H Cave, M Polak, M Hachicha. Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 2017 May;24(5):453-456


PMID: 28347637

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