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Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.

Authors :
Kamoun, T.
Chabchoub, I.
Ben Ameur, S.
Kmiha, S.
Aloulou, H.
Cave, H.
Polak, M.
Hachicha, M.
Source :
Archives de Pédiatrie. May2017, Vol. 24 Issue 5, p453-456. 4p.
Publication Year :
2017

Abstract

Summary 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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
0929693X
Volume :
24
Issue :
5
Database :
Academic Search Index
Journal :
Archives de Pédiatrie
Publication Type :
Academic Journal
Accession number :
122455592
Full Text :
https://doi.org/10.1016/j.arcped.2017.02.021