Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
2017
Key Clinical Message
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.
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