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

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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Bibliographic Details
Main Authors: Dénes Zádori, Levente Szalárdy, Zita Reisz, Gabor G. Kovacs, Rita Maszlag-Török, Norbert F. Ajeawung, László Vécsei, Philippe M. Campeau, Péter Klivényi
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-08-01
Series:Frontiers in Neurology
Subjects:
DOORS syndrome
ATP6V1B2 gene
lysosome
neuropathology
tauopathy
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00767/full

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https://www.frontiersin.org/article/10.3389/fneur.2020.00767/full

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