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Abstract
Neonatal diabetes with complete agenesis of the pancreas: new missense mutation of the gene PDX1
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.
Published Date: 2021-10-11;