Hearing loss and connexin 26

Kemperman, Martijn H.; Hoefsloot, Lies H.; Cremers, Cor W. R. J.
April 2002
Journal of the Royal Society of Medicine;Apr2002, Vol. 95 Issue 4, p171
Academic Journal
The article focuses on DFNB1, which is the first locus incriminated in autosomal recessive deafness and which is caused by mutations in the connexin 26 gene (CX26). DFNB1 is a recessive hereditary bilateral deafness. The results of a study on CX26 mutations in Nijmegen, Netherlands is summarized. Tables showing all known forms of hereditary deafness are presented, including genes associated with autosomal dominant non-syndromic hearing impairment.


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