Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter

Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter

Leukodystrophies are a group of heterogeneous disorders affecting brain myelin. Among those, childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM) is one of the more common inherited leukodystrophies. Pathogenic variants in one of the genes encoding five subu...

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Bibliographic Details
Main Authors: Parith Wongkittichote, Soe Soe Mar, Robert C. McKinstry, Hoanh Nguyen
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Genetics
Subjects:
leukodystrophy
childhood ataxia with central nervous system hypomyelination/vanishing white matter
EIF2B3
ataxia
developmental regression
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.893057/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.893057/full

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