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

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1 Published in 2020 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2020.00767

Abstract: 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,… read more here.

Keywords: doors syndrome; mutation atp6v1b2; clinicopathological relationships; atp6v1b2 gene ... See more keywords