Article
[Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].
Laryngo- rhino- otologie - 1 Mar 2006
Birkenhäger R, Zimmer A J, Maier W, Schipper J
Abstract excerpt
BACKGROUND: Hitherto more than hundred genes and gene loci for non-syndromic or syndromic deafness have been identified. Mutations in the connexin 26 gene (GJB2) account for up to 50 % of the cases of autosomal recessive hearing loss. The genes GJB2 (Connexin 26), GJB3 (connexin 31) and GJB6 (connexin 31) are located on chromosome 13q11-12. In the inner ear up to four different connexins are expressed. Connexins...
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