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Liver Disease in GLIS3 Mutations: Transplant Considerations and Bile Duct Paucity on Explant Histology.

Journal of pediatric gastroenterology and nutrition - 1 Jul 2023

Couper Michael R, Brown Rachel M, Gupte Girish, Perera M Thamara P R, Kelgeri Chayarani

Abstract excerpt

GLI-similar 3 (GLIS3) gene mutation heterozygosity is characterized by neonatal diabetes and hypothyroidism. It has wide phenotypic variability. Liver disease is prevalent, and its complications in some phenotypes are life-limiting. Transplantation and the pathogenesis of GLIS3 liver disease are not well explored in the literature. We report 2 cases of children with GLIS3 mutations with chronic liver disease who...

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Bile Ducts
DNA-Binding Proteins
Liver Diseases
Mutation
Repressor Proteins

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PMID: 36917836
DOI: 10.1097/MPG.0000000000003773

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