Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease

• Main Authors: Muhammad Imran Naseer (Author), Angham Abdulrahman Abdulkareem (Author), Peter Natesan Pushparaj (Author), Samah Saharti (Author), Osama Y. Muthaffar (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Leukodystrophies are a diverse group of genetically established disorders categorized by unusual white matter changes on brain imaging. Hypomyelinating leukodystrophies (HLDs) are a group of neurodevelopmental disorders that affect myelin sheath development in the brain. These disorders are categori...