Chappell, Louise

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. [electronic resource] - American journal of medical genetics. Part A Jul 2008 - 1713-7 p. digital

Publication Type: Case Reports; Journal Article; Review

1552-4833

10.1002/ajmg.a.32304 doi


Abnormalities, Multiple--genetics
Consanguinity
DNA Mutational Analysis
Diabetes Mellitus--congenital
Female
Gallbladder--abnormalities
Genes, Recessive
Hepatocyte Nuclear Factor 6--genetics
Humans
Infant
Infant, Newborn
Intestinal Atresia--complications
Phenotype
Syndrome