Article
Non-syndromic, autosomal-recessive deafness.
Clinical genetics - 1 May 2006
Petersen M B, Willems P J
Abstract excerpt
Non-syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Autosomal-recessive genes are responsible for about 80% of the cases of hereditary non-syndromic deafness of pre-lingual onset with 23 different genes identified to date. In the present article, we review these 23 genes, their function, and their contribution to genetic deafness in different...
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