Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

Bi-allelic pathogenic variants in genes of the EIF2B family are responsible for Childhood Ataxia with Central nervous system Hypomyelination/Vanishing White Matter disease, a progressive neurodegenerative disorder of the central white matter. Only seven molecularly proven cases with antenatal onset...

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Detalles Bibliográficos
Autores principales: Trimouille, Aurélien, Marguet, Florent, Sauvestre, Fanny, Lasseaux, Eulalie, Pelluard, Fanny, Martin-Négrier, Marie-Laure, Plaisant, Claudio, Rooryck, Caroline, Lacombe, Didier, Arveiler, Benoît, Boespflug-Tanguy, Odile, Naudion, Sophie, Laquerrière, Annie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7161274/
https://www.ncbi.nlm.nih.gov/pubmed/32293553
http://dx.doi.org/10.1186/s40478-020-00929-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7161274/
https://www.ncbi.nlm.nih.gov/pubmed/32293553
http://dx.doi.org/10.1186/s40478-020-00929-2

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