A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

@article{Cryns2004AGC,
  title={A genotype-phenotype correlation for GJB2 (connexin 26) deafness.},
  author={Kim Cryns and Eva Orzan and Alessandra Murgia and Patrick L. M. Huygen and Felipe Moreno and Ignacio Del Castillo and G Parker Chamberlin and Hela Azaiez and Sushma Prasad and Robert A. Cucci and Emanuela Leonardi and Rikkert L Snoeckx and Paul J Govaerts and Paul Van de Heyning and Caroline M Van de Heyning and Richard J H Smith and Guy Van Camp},
  journal={Journal of medical genetics},
  year={2004},
  volume={41 3},
  pages={
          147-54
        }
}
INTRODUCTION Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test. OBJECTIVE To assess a possible genotype-phenotype correlation for GJB2. DESIGN Retrospective analysis of audiometric data from people with hearing impairment, segregating two GJB2 mutations. SUBJECTS Two hundred and seventy seven unrelated patients with hearing… CONTINUE READING

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