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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Detalles Bibliográficos
Autores principales: Wongkittichote, Parith, Mar, Soe Soe, McKinstry, Robert C., Nguyen, Hoanh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9247212/
https://www.ncbi.nlm.nih.gov/pubmed/35783294
http://dx.doi.org/10.3389/fgene.2022.893057

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9247212/
https://www.ncbi.nlm.nih.gov/pubmed/35783294
http://dx.doi.org/10.3389/fgene.2022.893057

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