Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation

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.

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Case Rep
Prif Awduron: Menendez, Ibis, Carranza, Claudia, Herrera, Mariana, Marroquin, Nely, Foster, Joseph, Cengiz, Filiz Basak, Bademci, Guney, Tekin, Mustafa
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2017
Pynciau:
Case Reports
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5378843/
https://ncbi.nlm.nih.gov/pubmed/28396750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.761
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