A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency.
Journal of Otology(2016)
摘要
The PIK3CD C896T mutation responsible for primary immunodeficiency may contribute to the onset of bilateral SSNHL with subsequent rapid progression.
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关键词
Sudden sensorineural hearing loss,Immunology,Genetics,Next generation sequencing
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