Mutation analysis of the GJB2 (connexin 26) gene in Egypt.

@article{Snoeckx2005MutationAO,
  title={Mutation analysis of the GJB2 (connexin 26) gene in Egypt.},
  author={Rikkert L Snoeckx and Dalia Mohamed Hassan and Nadia M. Kamal and Kris Van den Bogaert and Guy Van Camp},
  journal={Human mutation},
  year={2005},
  volume={26 1},
  pages={60-1}
}
Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. In this study, we present the analysis of the GJB2 gene in 159 Egyptians from 111 families with non-syndromic mild to profound hearing impairment. An additional family with Vohwinkel syndrome, a combination of hearing impairment and palmoplantar keratoderma… CONTINUE READING
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