Article
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.
PloS one - 1 Jan 2015
Chao Christina S, McKnight Kristen D, Cox Kenneth L, Chang Anne L, Kim Seung K, Feldman Brian J
Abstract excerpt
Patients with pancreatic agenesis are born without a pancreas, causing permanent neonatal diabetes and pancreatic enzyme insufficiency. These patients require insulin and enzyme replacement therapy to survive, grow, and maintain normal blood glucose levels. Pancreatic agenesis is an uncommon condition but high-throughput sequencing methods provide a rare opportunity to identify critical genes that are necessary...
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