Molecular Genetics,University of Exeter Medical School, The Wellcome Wolfson Medical Research Centre, USA
Review Article
Neonatal diabetes with complete agenesis of the pancreas: new missense
mutation of the gene PDX1
Author(s): Zineb IMANE*, Salma AHKOUK and Sarah E.FLANAGAN
The purpose of this original clinical case is to report for the first time in the literature a new PDX1 missense mutation, p.(Arg175Leu) associating resulting in complete agenesis of the pancreas with a Neonatal Diabetes exocrine pancreatic insufficiency. .. View more»