Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene

BACKGROUND: The enlarged vestibular aqueduct (EVA) is the commonest malformation of inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4, FOXI1, and KCNJ10 have been associated with EVA, among them SLC26A4 being the most common. Yet, hotspot mutation screening can onl...

Descripción completa

Detalles Bibliográficos
Autores principales: Tian, Yongan, Xu, Hongen, Liu, Danhua, Zhang, Juanli, Yang, Zengguang, Zhang, Sen, Liu, Huanfei, Li, Ruijun, Tian, Yingtao, Zeng, Beiping, Li, Tong, Lin, Qianyu, Wang, Haili, Li, Xiaohua, Lu, Wei, Shi, Ying, Zhang, Yan, Zhang, Hui, Jiang, Chang, Xu, Ying, Chen, Bei, Liu, Jun, Tang, Wenxue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404235/
https://www.ncbi.nlm.nih.gov/pubmed/34170635
http://dx.doi.org/10.1002/mgg3.1734

Ejemplares similares

Ejemplares similares