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Article

Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.

Journal of medical genetics - 1 Oct 2012

Yorifuji Tohru, Kawakita Rie, Hosokawa Yuki, Fujimaru Rika, Yamaguchi Emi, Tamagawa Nobuyoshi

Abstract excerpt

GATA6 haploinsufficiency has recently been reported as the most frequent cause of neonatal diabetes with pancreatic agenesis. Although all previously reported cases represented a de novo mutation with complete agenesis or pronounced hypoplasia of the pancreas, in this study we identified a family with a dominantly inherited mutation. Unlike previously reported cases, the degree of pancreatic hypoplasia and the...

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Source

Identifiers

PMID: 22962692
DOI: 10.1136/jmedgenet-2012-101161

Genes

GATA6

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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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