A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency

A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency

Objective: To investigate immune-related genetic background in bilateral sudden sensorineural hearing loss (SSNHL). Case report and methods: The case is a 45-year-old man presenting with a 7-year history of bilateral profound SSNHL. Blood biochemical testing demonstrated increased levels of total ch...

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Bibliographic Details
Main Authors: Jing Zou, Xiangqiang Duan, Guiliang Zheng, Zhen Zhao, Shiyue Chen, Pu Dai, Hongliang Zheng
Format: Article
Language:English
Published: Elsevier 2016-06-01
Series:Journal of Otology
Subjects:
Sudden sensorineural hearing loss
Immunology
Genetics
Next generation sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S1672293016300277

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http://www.sciencedirect.com/science/article/pii/S1672293016300277

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