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Article

Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation

Journal of clinical research in pediatric endocrinology - 22 Nov 2023

Sarıkaya Emre, Kendirci Mustafa, Demir Mikail, Dündar Munis

Abstract excerpt

Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene. Small for gestational age, congenital glaucoma, polycystic kidney disease, cholestatic hepatic fibrosis, pancreatic exocrine insufficiency, developmental delay, dysmorphic facial features, sensorineural deafness, osteopenia, and skeletal anomalies are other...

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Identifiers

PMID: 35410112
DOI: 10.4274/jcrpe.galenos.2022.2021-12-19
PMCID: PMC10683540

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