RARS1‐related hypomyelinating leukodystrophy‐9 (HLD‐9) in two distinct Iranian families: Case report and literature review

RARS1‐related hypomyelinating leukodystrophy‐9 (HLD‐9) in two distinct Iranian families: Case report and literature review

Abstract Background Hypomyelinating leukodystrophy‐9 (HLD‐9) is caused by biallelic pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for arginine (ArgRS). This study aims to evaluate the clinical, neuroradiological, and genetic characteristics of patients with RARS1‐rela...

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Bibliographic Details
Main Authors: Sajjad Biglari, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar, Hamid Reza Khorram Khorshid, Emran Esmaeilzadeh
Format: Article
Language:English
Published: Wiley 2024-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
exome sequencing
leukodystrophy and hypomyelination
RARS1
Online Access:https://doi.org/10.1002/mgg3.2435

Internet

https://doi.org/10.1002/mgg3.2435

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