High frequency hearing loss correlated with mutations in the GJB2 gene

@article{Wilcox2000HighFH,
  title={High frequency hearing loss correlated with mutations in the GJB2 gene},
  author={Stephen A Wilcox and Kerryn Saunders and Amelia H Osborn and Angela Arnold and Julia Wunderlich and Therese Kelly and Veronica Collins and Leah J Wilcox and RJ McKinlay Gardner and Maria Kamarinos and Barbara Cone-Wesson and Robert Williamson and Hans-Henrik M. Dahl},
  journal={Human Genetics},
  year={2000},
  volume={106},
  pages={399-405}
}
  • Stephen A Wilcox, Kerryn Saunders, +10 authors Hans-Henrik M. Dahl
  • Published in Human Genetics 2000
  • DOI:10.1007/s004390000273
Abstract. Genetic hearing impairment affects approximately 1/2000 live births. Mutations in one gene, GJB2, coding for connexin 26 cause 10%–20% of all genetic sensorineural hearing loss. Mutation analysis in the GJB2 gene and audiology were performed on 106 families presenting with at least one child with congenital hearing loss. The families were recruited from a hospital-based multi-disciplinary clinic, which functions to investigate the aetiology of sensorineural hearing loss in children… CONTINUE READING
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  • 2005
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