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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Detalles Bibliográficos
Autores principales: Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Pushparaj, Peter Natesan, Saharti, Samah, Muthaffar, Osama Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9171136/
https://www.ncbi.nlm.nih.gov/pubmed/35685919
http://dx.doi.org/10.3389/fped.2022.862722

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9171136/
https://www.ncbi.nlm.nih.gov/pubmed/35685919
http://dx.doi.org/10.3389/fped.2022.862722

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