Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

@article{Heer2009MildAV,
  title={Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.},
  author={Anne-Martine R de Heer and Patrick L. M. Huygen and Rob W J Collin and Hannie Kremer and Cor W. R. J. Cremers},
  journal={The Annals of otology, rhinology, and laryngology},
  year={2009},
  volume={118 4},
  pages={313-20}
}
OBJECTIVES Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P. METHODS A 4-generation pedigree was constructed of the Dutch family with the novel L223P POU4F3 mutation. Pure tone audiometric data were collected and analyzed cross-sectionally in mutation carriers. Age-related typical audiograms were derived. Vestibular examination was performed in most of the mutation carriers. The results were compared to those obtained from… CONTINUE READING

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