Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus.

Source: BMC Medical Genetics - April 3, 2020 Category: Genetics & Stem Cells Authors: Begona Sanchez-Lechuga, Muhammad Saqlain, Nicholas Ng, Kevin Colclough, Conor Woods and Maria Byrne Tags: Case report Source Type: research