Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.

ABSTRACT: Our report clarifies the role of ATP6V1B2 in patients with deafness and onycho-osteodystrophy and confirms that a recurring ATP6V1B2 c.1516C>T [p.(Arg506*)], variant causes dominant deafness-onychodystrophy (DDOD) syndrome.

SUBMITTER: Menendez I 

PROVIDER: S-EPMC5378843 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature