Article
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.
Journal of human genetics - 1 Nov 2014
Lu Yu, Zhou Xueya, Jin Zhanguo, Cheng Jing, Shen Weidong, Ji Fei, Liu Liyang, Zhang Xuegong, Zhang Michael, Cao Ye, Han Dongyi, Choy KwongWai, Yuan Huijun
Abstract excerpt
Here, we report an unconventional Chinese pedigree consisting of three branches all segregating prelingual hearing loss (HL) with unclear inheritance pattern. After identifying the cause of one branch as maternally inherited aminoglycoside-induced HL, targeted next generation sequencing (NGS) was applied to identify the genetic causes for the other two branches. One affected subject from each branch was subject...
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