Overview of genetic variants in a cohort of Iranian patients with leukodystrophy

Overview of genetic variants in a cohort of Iranian patients with leukodystrophy

Abstract Leukodystrophies are a number of rare genetic disorders that influence the white matter of the brain. The current study aimed to identify the underlying genetic cause of leukodystrophy in 14 Iranian cases, mainly presented by hypomyelinating leukodystrophies. Whole exome sequencing was used...

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Bibliographic Details
Main Authors: Mohadeseh Fathi, Sheyda Khalilian, Mohammad Miryounesi, Soudeh Ghafouri-Fard
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Leukodystrophy
RARS1
GJC2
ACER3
Online Access:https://doi.org/10.1038/s41598-025-07597-z
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