Muhammad Imran Naseer Angham Abdulrahman Abdulkareem Peter Natesan Pushparaj Samah Saharti Osama Y Muthaffar
10.3389/fped.2022.862722
Front Pediatr
2022 May 24;10:862722.
polr1c saudi family wes hypomyelinating disease intellectual developmental disorder leukodystrophy
CC BY
https://pubmed.ncbi.nlm.nih.gov/35685919/
Case Reports
PMC9171136
35685919
Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease
2022