Article
Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.
Hormone research in paediatrics - 1 Jan 2013
Gong Maolian, Simaite Deimante, Kühnen Peter, Heldmann Michael, Spagnoli Francesca, Blankenstein Oliver, Hübner Norbert, Hussain Khalid, Raile Klemens
Abstract excerpt
BACKGROUND: GATA6 mutations are the most frequent cause of pancreatic agenesis and diabetes in human sporadic cases. In families, dominantly inherited mutations show a variable phenotype also in terms of endocrine and exocrine pancreatic disease. We report two novel GATA6 mutations in an independent cohort of 8 children with pancreas aplasia or hypoplasia and diabetes. METHODS: We sequenced GATA6 in 8 children...
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