听力损失
听力学
先证者
医学
遗传学
突变
生物
基因
作者
A. Eliot Shearer,Michael S. Hildebrand,Richard J. Smith
出处
期刊:PubMed Central - Europe PMC
日期:2017-07-27
被引量:141
摘要
This overview focuses on the clinical features and molecular genetics of common syndromic and nonsyndromic types of hereditary hearing loss.The goals of this overview on hereditary hearing loss and deafness are the following: Goal 1 Describe the clinical characteristics of hereditary hearing loss and deafness. Goal 2 Review the causes of hereditary hearing loss and deafness. Goal 3 Provide an evaluation strategy to identify the genetic cause of hereditary hearing loss and deafness in a proband (when possible). Goal 4 Inform genetic counseling of family members of an individual with hereditary hearing loss and deafness. Goal 5 Review management of hereditary hearing loss and deafness.
科研通智能强力驱动
Strongly Powered by AbleSci AI