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: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2025-03-01
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| Series: | JCRPE |
| Subjects: | |
| 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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