Associated Papers
An animal model recapitulates human hepatic diseases associated with GATA6 mutations.
Shi W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
39739787 (PubMed )
Supplement: pnas.2317801121.sapp.pdf
A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature.
Gaisl O et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.
Du YT et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2019
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
De Franco E et al.
American Journal of Human Genetics, 2019
31006513 (PubMed )
Supplement: mmc1.pdf
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.
Yau D et al.
Diagnostic Pathology, 2017
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