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Connexin 26 mutations in nonsyndromic autosomal recessive hearing loss: speech and hearing rehabilitation

✍ Scribed by Massimo Mesolella; Gaetano Tranchino; Massimiliano Nardone; Sergio Motta; Vieri Galli


Book ID
116563640
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
717 KB
Volume
68
Category
Article
ISSN
0165-5876

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Autosomal recessive nonsyndromic hearing
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Nearly all genes for autosomal recessive nonsyndromal inherited hearing loss (ARNSHL) localized thus far cause prelingual severe to profound or profound hearing impairment. Of the 25 reported loci, most have been identified using single consanguineous families. Six of these genes have been cloned an

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Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc