遺伝遺伝学: 現在の研究

概要

Neonatal diabetes with complete agenesis of the pancreas: new missense mutation of the gene PDX1

Zineb IMANE, Salma AHKOUK, 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.