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Other reports have described cases with overlapping patterns including malrotation, biliary atresia and pancreatic hypoplasia (e.g. as described by Mart\u00ednez\u2010Fr\u00edas). We propose that these cases may represent variations of the same syndrome. It is likely that this disorder is inherited as an autosomal recessive trait. Our case is the first to have neonatal diabetes without a demonstrable structural pancreatic abnormality, showing that a deficit in pancreatic function is involved. We sequenced genes with a recognized role in monogenic forms of diabetes, including <jats:italic>KCNJ11<\/jats:italic>, <jats:italic>ABCC8<\/jats:italic>, <jats:italic>GCK<\/jats:italic>, <jats:italic>IPF1<\/jats:italic>, <jats:italic>HNF1\u03b2<\/jats:italic>, <jats:italic>NeuroD1<\/jats:italic> and <jats:italic>TCF7L2<\/jats:italic>, as well as a novel candidate gene, <jats:italic>HNF6<\/jats:italic>, known to be involved in hepatobiliary and pancreatic development, but did not identify mutations. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32304","type":"journal-article","created":{"date-parts":[[2008,5,29]],"date-time":"2008-05-29T17:49:03Z","timestamp":1212083343000},"page":"1713-1717","source":"Crossref","is-referenced-by-count":41,"title":["A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder 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