Dominant deafness–onychodystrophy syndrome caused by an <i><scp>ATP</scp>6V1B2</i> mutation - Concepedia

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Dominant deafness–onychodystrophy syndrome caused by an <i><scp>ATP</scp>6V1B2</i> mutation

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29

Citations

9

References

2017

Year

Ibis Menéndez, Claudia Carranza, Mariana Herrera‐Cruz, Nely Marroquín, Joseph Foster, Filiz Başak Cengiz, Güney Bademci, Mustafa Tekin

Clinical Case Reports

Abstract

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

References

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