Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches

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 ap...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521291/
https://www.ncbi.nlm.nih.gov/pubmed/25231367
http://dx.doi.org/10.1038/jhg.2014.78

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521291/
https://www.ncbi.nlm.nih.gov/pubmed/25231367
http://dx.doi.org/10.1038/jhg.2014.78

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