Associated Papers
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
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.
Chao CS et al.
Plos One, 2015
25706805 (PubMed )
Supplement: pone.0118449.s001.pdf
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Yu L et al.
Journal of Medical Genetics, 2014
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
De Franco E et al.
Diabetes, 2013
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