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neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis
Monday 16 June 2008
Synopsis
neonatal diabetes
intestinal atresias
gall bladder agenesis
Overlapping patterns
intestinal malrotation
biliary atresia
pancreatic hypoplasia
Candidate genes@<@
monogenic forms of diabetes: KCNJ11, ABCC8, GCK, IPF1, HNF1beta
NeuroD1
TCF7L2
HNF6
References
Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow Y. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A. 2008 May 29. PMID: 18512226