Shira London Elisa De Franco Ghadir Elias-Assad Marie Noufi Barhoum Clari Felszer Marina Paniakov Scott A Weiner Yardena Tenenbaum-Rakover
10.3389/fendo.2021.673755
Front Endocrinol (Lausanne)
2021 May 18;12:673755.
glis3 mutation congenital glaucoma congenital hypothyroidism neonatal diabetes β-cell development
CC BY
https://pubmed.ncbi.nlm.nih.gov/34093443/
Biomarkers / blood Congenital Hypothyroidism / pathology DNA-Binding Proteins / genetics Diabetes Mellitus / pathology Infant, Newborn, Diseases / pathology Mutation Repressor Proteins / genetics Trans-Activators / genetics
Biomarkers / blood Congenital Hypothyroidism / pathology DNA-Binding Proteins / genetics Diabetes Mellitus / pathology Infant, Newborn, Diseases / pathology Mutation Repressor Proteins / genetics Trans-Activators / genetics Case Reports Research Support, Non-U.S. Gov't Blood Glucose / analysis Child, Preschool Congenital Hypothyroidism / etiology Congenital Hypothyroidism / metabolism Diabetes Mellitus / etiology Diabetes Mellitus / metabolism Female Gene Expression Regulation Humans Infant, Newborn Infant, Newborn, Diseases / etiology Infant, Newborn, Diseases / metabolism Male Phenotype Prognosis Biomarkers Blood Glucose DNA-Binding Proteins GLIS3 protein, human Repressor Proteins Trans-Activators
PMC8169976
34093443
Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins
2021