Article
[From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene].
Nederlands tijdschrift voor geneeskunde - 3 Dec 2005
Slingerland A S, Bruining G J
Abstract excerpt
Neonatal diabetes mellitus (DM) is by definition diagnosed within the first 3 months of life and can be either transient (TNDM) or permanent (PNDM). Recently, activating mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the K(ATP) channel, have been identified as a cause of TNDM, the main cause of PNDM, and the cause of a new syndrome: developmental delay, epilepsy and neonatal diabetes. Patients...
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