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Dominant deafness–onychodystrophy syndrome caused by an ATP 6V1B2 mutation

  • Menendez I
  • Carranza C
  • Herrera M
  • et al.
Clinical Case Reports (2017) 5(4) 376-379
DOI: 10.1002/ccr3.761
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Abstract

Our report clarifies the role of ATP 6V1B2 in patients with deafness and onycho‐osteodystrophy and confirms that a recurring ATP 6V1B2 c.1516C>T [p.(Arg506*)], variant causes dominant deafness–onychodystrophy (DDOD) syndrome.

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APA

Menendez, I., Carranza, C., Herrera, M., Marroquin, N., Foster, J., Cengiz, F. B., … Tekin, M. (2017). Dominant deafness–onychodystrophy syndrome caused by an  ATP 6V1B2  mutation. Clinical Case Reports, 5(4), 376–379. https://doi.org/10.1002/ccr3.761

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