Article
Audiometric evaluation of carriers of the connexin 26 mutation 35delG.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Nov 2005
Franzé Annamaria, Caravelli Antonella, Di Leva Francesca, Marciano Elio, Auletta Gennaro, D'Aulos Federica, Saulino Claudio, Esposito Laura, Carella Massimo, Gasparini Paolo
Abstract excerpt
Mutation in a gap junction protein gene (GJB2 also named connexin 26) is a major cause of autosomal recessive congenital deafness, which is responsible for about 80% of the cases in Mediterranean families, but actually little is known about the influence of GJB2 mutations on the hearing of obligate carriers. We examined GJB2 35delG mutation carrier individuals to test the possible presence and incidence of...
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