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Article

Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.

American journal of medical genetics. Part A - 1 Jun 2020

Raghuram Nikhil, Marwaha Ashish, Greer Mary-Louise C, Gauda Estelle, Chitayat David

Abstract excerpt

GATA6 pathogenic variants primarily manifest a phenotype with pancreatic agenesis and cardiac malformations. However, additional congenital malformations affecting the biliary system, congenital diaphragmatic hernia and developmental delay have been reported. We report a newborn, prenatally diagnosed with truncus arteriosus and intrauterine growth restriction, who was postnatally found to have pancreatic agenesis...

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Identifiers

PMID: 32207556
DOI: 10.1002/ajmg.a.61569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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