Article
Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis.
The Journal of laryngology and otology - 1 Jan 2004
Salvinelli Fabrizio, Casale Manuele, D'Ascanio Luca, Firrisi Luca, Greco Fabio, Baldi Alfonso
Abstract excerpt
35delG is the most common mutation in the Connexin-26 gene, representing a major cause of autosomal recessive hearing loss. The aim of this study was to evaluate the relationship between the audiological phenotype and the 35delG mutation in 64 Sicilians with non-syndromic deafness. Pure-tone audiometry and a screening for 35delG mutation were performed. Audiograms were evaluated according to the classification of...
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