The First Case of 4H Syndrome with Type 1 Diabetes Mellitus

The First Case of 4H Syndrome with Type 1 Diabetes Mellitus

4H syndrome is a rare, progressive, hypomyelinating leukodystrophy. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are the three classic features of 4H syndrome. Biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K gene cause 4H leukodystrophy. Herein, we present clini...

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Main Authors: Gönül Büyükyılmaz, Büşra Erozan Çavdarlı, Keziban Toksoy Adıgüzel, Mehmet Adıgüzel, Çiğdem Seher Kasapkara, Fatih Gürbüz, Mehmet Boyraz, Esra Gürkaş
Format: Article
Language:English
Published: Galenos Yayincilik 2025-03-01
Series:JCRPE
Subjects:
4h leukodystrophy
polr3a
hypogonadotropic hypogonadism
type 1 diabetes mellitus
Online Access:https://www.jcrpe.org/articles/the-first-case-of-4h-syndrome-with-type-1-diabetes-mellitus/doi/jcrpe.galenos.2023.2023-1-15
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https://www.jcrpe.org/articles/the-first-case-of-4h-syndrome-with-type-1-diabetes-mellitus/doi/jcrpe.galenos.2023.2023-1-15

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