GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.


The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss. Moreover, it has been demonstrated that connexins are involved in regulation of… (More)
DOI: 10.2174/138920211797904098


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