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