Ontology highlight
ABSTRACT:
SUBMITTER: Stanescu DE
PROVIDER: S-EPMC4102676 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Stanescu Diana E DE Hughes Nkecha N Patel Puja P De León Diva D DD
Pediatric diabetes 20140117 1
Heterozygous mutations in GATA6 have been linked to pancreatic agenesis and cardiac malformations. The aim of this study was to describe a new mutation in GATA6 in an infant with pancreatic agenesis, associated with truncus arteriosus and absent gallbladder. Clinical data were obtained from chart review. Gene sequencing was performed on genomic DNA. The patient was a female infant diagnosed shortly after birth with a severe cardiac malformation, absent gallbladder, anomalous hepatic blood flow, ...[more]