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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Detalles Bibliográficos
Autores principales: Zou, Jing, Duan, Xiangqiang, Zheng, Guiliang, Zhao, Zhen, Chen, Shiyue, Dai, Pu, Zheng, Hongliang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chinese PLA General Hospital 2016
Materias:
Research article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002587/
https://www.ncbi.nlm.nih.gov/pubmed/29937814
http://dx.doi.org/10.1016/j.joto.2016.06.001

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