A case of pancreatic agenesis and congenital heart defects with a novel <i>GATA</i><i>6</i> nonsense mutation: Evidence of haploinsufficiency due to nonsense‐mediated mRNA decay

Abstract excerpt

Recently, GATA6 heterozygous loss-of-function mutations were reported to cause pancreatic agenesis and congenital heart defects (PACHD [OMIM:600001]). However, the molecular mechanisms resulting from premature termination codons have not been examined in this disorder. The objective of this study was to perform a genetic analysis of a patient with PACHD. A female patient presented with ventricular septal defect,...

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