Related Experiment Videos
Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation
Ibis Menendez1, Claudia Carranza2, Mariana Herrera2
1John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA.
Clinical Case Reports
|April 12, 2017
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.