Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

@article{Pandya2003FrequencyAD,
  title={Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands},
  author={Arti Pandya and Kathleen Shaver Arnos and Xia Juan Xia and Katherine Oelrich Welch and Susan Halloran Blanton and Thomas B Friedman and Guillermina Garc{\'i}a S{\'a}nchez and Xiu Zhen Liu and Robert Morell and Walter E. Nance},
  journal={Genetics in Medicine},
  year={2003},
  volume={5},
  pages={295-303}
}
Purpose: Profound hearing loss occurs with a frequency of 1 in 1000 live births, half of which is genetic in etiology. The past decade has witnessed rapid advances in determining the pathogenesis of both syndromic and nonsyndromic deafness. The most significant clinical finding to date has been the discovery that mutations of GJB2 at the DFNB1 locus are the… CONTINUE READING