Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene

DOORS [deafness, onychodystrophy, osteodystrophy, intellectual disability (mental retardation), and seizures] syndrome can be caused by mutations in the TBC1D24 and ATP6V1B2 genes, both of which are involved in endolysosomal function. Because of its extreme rarity, to date, no detailed neuropatholog...

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Detalles Bibliográficos
Autores principales: Zádori, Dénes, Szalárdy, Levente, Reisz, Zita, Kovacs, Gabor G., Maszlag-Török, Rita, Ajeawung, Norbert F., Vécsei, László, Campeau, Philippe M., Klivényi, Péter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427051/
https://www.ncbi.nlm.nih.gov/pubmed/32849222
http://dx.doi.org/10.3389/fneur.2020.00767

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427051/
https://www.ncbi.nlm.nih.gov/pubmed/32849222
http://dx.doi.org/10.3389/fneur.2020.00767

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