Novel GATA6 Mutations in Patients with Pancreatic Agenesis and Congenital Heart Malformations
Chao C, McKnight K, Cox K, Chang A, Kim S, Feldman B. Novel GATA6 Mutations in Patients with Pancreatic Agenesis and Congenital Heart Malformations. PLOS ONE 2015, 10: e0118449. PMID: 25706805, PMCID: PMC4338276, DOI: 10.1371/journal.pone.0118449.Peer-Reviewed Original ResearchConceptsPancreatic agenesisNeonatal diabetesDe novo heterozygous mutationIntrauterine growth restrictionPermanent neonatal diabetesCongenital heart malformationsEnzyme replacement therapyMinor heart defectsWhole-exome sequencingNormal blood glucose levelsPancreatic enzyme insufficiencyHigh-throughput sequencing methodsIn vitro functional analysisGATA6 mutationsPremature stop codonGrowth restrictionHeart defectsBlood glucose levelsHeart malformationsHeterozygous mutationsReplacement therapyGATA6 geneClinical historyHuman pancreas developmentAgenesis
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