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Article

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Nature genetics - 11 Dec 2011

Allen Hana Lango, Flanagan Sarah E, Shaw-Smith Charles, De Franco Elisa, Akerman Ildem, Caswell Richard, Ferrer Jorge, Hattersley Andrew T, Ellard Sian

Abstract excerpt

Understanding the regulation of pancreatic development is key for efforts to develop new regenerative therapeutic approaches for diabetes. Rare mutations in PDX1 and PTF1A can cause pancreatic agenesis, however, most instances of this disorder are of unknown origin. We report de novo heterozygous inactivating mutations in GATA6 in 15/27 (56%) individuals with pancreatic agenesis. These findings define the most...

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Identifiers

PMID: 22158542
DOI: 10.1038/ng.1035
PMCID: PMC4062962

Genes

GATA6
PDX1

Provenance

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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