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...
| Main Authors: | , , |
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| Format: | Online |
| Language: | English |
| Published: |
Bentham Science Publishers
2011
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219843/ |