Genetic Approach to Evaluation of Hearing Loss
Genetic Approach to Evaluation of Hearing Loss
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DOI：
10.1016/j.otc.2011.08.015
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发表时间：
2012-02-01
影响因子：
1.7
通讯作者：
Phillips, John A., III
中科院分区：
文献类型：
--
作者：
Cohen, Melinda;Phillips, John A., III
关于听力损失疾病的遗传基础和检测的信息正在迅速增加。在这篇综述中，作者解释了遗传术语、遗传原理、遗传变异的类型以及选定的听力损失疾病的遗传基础。作者还回顾了如何获得遗传学和基因检测的信息，概述了诊断听力损失的遗传学方法，并讨论了耳科医生和遗传学家如何合作，加强遗传学对听力损失个人和家庭的临床应用。
Information on the genetic basis of and testing for disorders with hearing loss is increasing rapidly. In this review, the authors explain genetic terminology, the principles of inheritance, and the types of genetic variation and the genetic basis of selected disorders of hearing loss. The authors also review how information on genetics and genetic testing can be obtained, outline a genetic approach to the diagnosis of hearing loss, and discuss how otologists and geneticists can work together to strengthen the clinical applications of genetics to individuals and families who have hearing loss.