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De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome

10 Jun 2014

Abstract excerpt

Dominant deafness-onychodystrophy syndrome (DDOD syndrome; MIM 124480) is characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Prominent differences between DDOD syndrome and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) are the intellectual disability and seizure aspects of DOORS 1 . TBC1D24 mutations...

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PMID: 24913193
DOI: 10.1038/cr.2014.77

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