• DOI:10.1136/jmg.2004.018671
Corpus ID: 6898266

A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24

@article{Bogaert2004AFL,
  title={A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24},
  author={K. Van den Bogaert and E. De Leenheer and W. Chen and Y. Lee and P. N{\"u}rnberg and R. J. Pennings and K. Vanderstraeten and M. Thys and C. W. Cremers and R. J. Smith and G. Van Camp},
  journal={Journal of Medical Genetics},
  year={2004},
  volume={41},
  pages={450 - 453}
}

K. Van den Bogaert, E. De Leenheer, +8 authors G. Van Camp

Published 2004

Biology, Medicine

Journal of Medical Genetics

Otosclerosis is caused by abnormal bone homeostasis of the otic capsule leading to bony fixation of the stapedial footplate in the oval window. Because the transmission of sound waves from outer to inner ear is disturbed by this fixation, the disease is characterised by conductive hearing impairment.1 In some cases, an additional sensorineural component develops across all frequencies, leading to mixed hearing impairment.2,3 The conductive component of the hearing impairment can be restored by… CONTINUE READING

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