Article
High frequency hearing loss correlated with mutations in the GJB2 gene.
Human genetics - 1 Apr 2000
Wilcox S A, Saunders K, Osborn A H, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox L J, McKinlay Gardner R J, Kamarinos M, Cone-Wesson B, Williamson R, Dahl H H
Abstract excerpt
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 multidisciplinary clinic, which functions...
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