Article
Sudden hearing loss in a family with GJB2 related progressive deafness.
International journal of pediatric otorhinolaryngology - 1 Nov 2008
Kokotas Haris, Theodosiou Maria, Korres George, Grigoriadou Maria, Ferekidou Elisabeth, Giannoulia-Karantana Aglaia, Petersen Michael B, Korres Stavros
Abstract excerpt
Mutations of GJB2, the gene encoding connexin 26, have been associated with prelingual, sensorineural hearing loss of mild to profound severity. One specific mutation, the 35delG, has accounted for the majority of mutations detected in the GJB2 gene in Caucasian populations. Recent studies have described progression of hearing loss in a proportion of cases with GJB2 deafness. We report an unusual family with four...
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