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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