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

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...

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Gardado en:
Principais autores: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Peter Natesan Pushparaj, Samah Saharti, Osama Y. Muthaffar
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Pediatrics
Assuntos:
POLR1C
intellectual developmental disorder
leukodystrophy
hypomyelinating disease
WES
Saudi family
Acceso en liña:https://www.frontiersin.org/articles/10.3389/fped.2022.862722/full
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