科研之友
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摘要
Hearing loss is the most frequently occurring congenital sensory defect in humans. It is believed that between one and five of every 1000 children born suffers from hearing loss of at least 40 dB. The economic consequences of deafness are staggering and affect not only the individual patient but also society as a whole. A genetic cause is suspected in 50 %-70 % of cases of congenital hearing loss. To date over 130 loci have been associated with genetic hearing loss, with some loci containing more than one gene and others containing as yet unidentified genes. The present article is intended to provide some insight into the complex background issues involved and offer guidance on appropriate decision-making with regard to genetic testing in affected patients. Part 1 is concerned with non-syndromic hearing loss, while part 2 deals with syndromic hearing loss.
- 出版日期2013-4
