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

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, dev...

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Detalles Bibliográficos
Autores principales: Sarıkaya, Emre, Kendirci, Mustafa, Demir, Mikail, Dündar, Munis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683540/
https://www.ncbi.nlm.nih.gov/pubmed/35410112
http://dx.doi.org/10.4274/jcrpe.galenos.2022.2021-12-19