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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...
Autores principales: | Sarıkaya, Emre, Kendirci, Mustafa, Demir, Mikail, Dündar, Munis |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2023
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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 |
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