Article
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
Clinical genetics - 1 Dec 2005
Hutchin T, Coy N N, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu X Z, Bitner-Glindzicz M, Mueller R
Abstract excerpt
Approximately one in 2000 children is born with a genetic hearing impairment, mostly inherited as a non-syndromic, autosomal recessive trait, for which more than 30 different genes have been identified. Previous studies have shown that one of these genes, connexin 26 (GJB2), accounts for 30-60% of such deafness, but the relative contribution of the many other genes is not known, especially in the outbred UK...
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