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Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene

6 Sept 2010

Abstract excerpt

Permanent neonatal diabetes mellitus (PNDM) caused by homozygous mutations in the glucokinase gene (GCK) is rare and only eight homozygous GCK mutations have been reported so far. Heterozygous GCK mutations cause maturity-onset diabetes of the young (MODY). We report four patients with growth retardation from two separate families (with three siblings in one family and one patient in another family) presenting...

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PMID: 21518409
DOI: 10.1111/j.1399-5448.2010.00683.x

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