Article
Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?
Journal of human genetics - 1 May 2010
Kokotas Haris, Grigoriadou Maria, Korres George S, Ferekidou Elisabeth, Giannoulia-Karantana Aglaia, Kandiloros Dimitrios, Korres Stavros, Petersen Michael B
Abstract excerpt
Hearing impairment is a frequent condition, and genes have an important role in its etiology. The majority of hearing loss occurs in non-syndromic form, with deafness being the only clinically recognizable feature. More than 60 nuclear genes or loci have been shown to be involved in non-syndromic hearing loss, but mutations in mitochondrial DNA also cause hearing impairment. Mitochondrial DNA mutations usually...
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