A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.

@article{Pfister2004AGC,
  title={A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.},
  author={Markus H F Pfister and Holger Thiele and Guy Van Camp and Erik Frans{\'e}n and Fazil Apaydin and Omer C Aydin and Peter Leistenschneider and Marcella Devoto and Hans-Peter Zenner and Nikolaus Blin and Peter N{\"u}rnberg and Haluk Ozkarakaş and Susan Kupka},
  journal={Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology},
  year={2004},
  volume={14 4-6},
  pages={369-76}
}
BACKGROUND Alpha-tectorin is a noncollagenous component of the tectorial membrane which plays an essential role in auditory transduction. In several DFNA12 families mutations in TECTA, the gene encoding alpha-tectorin, were shown to cause hearing impairment (HI) with different phenotypes depending on the location of the mutation. METHODS/RESULTS Here we… CONTINUE READING