Abstract:The discovery of damaging gene mutations in congenital heart disease (CHD) patients enables identification of regulators of cardiac development. Exome sequencing identified
de novo
heterozygous loss-of-function (LoF) and missense variants in
GATA6
among CHD probands, most with outflow tract malformations. Other subjects with
GATA6
LoF mutations developed pancreatic agenesis. To elucidate the molecular basis for the predominance of this hea… Show more
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