Pancreatic agenesis is a rare disorder resulted from a failure of the pancreas to develop. It can be associated with the severe form of permanent neonatal diabetes mellitus. Mutations in insulin promoter factor 1 (IPF1), an essential factor for pancreas development, decrease the protein level and lead to the disease.
Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodriguez-Segui SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A, Ellard S, Ferrer J, Hattersley AT
タイトル
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
