Article
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Pandya Arti, Arnos Kathleen S, Xia Xia J, Welch Katherine O, Blanton Susan H, Friedman Thomas B, Garcia Sanchez Guillermina, Liu MD Xiu Z, Morell Robert, Nance Walter E
Abstract excerpt
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 major cause of profound prelingual deafness in many...
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