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

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

Abstract 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...

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Bibliographic Details
Main Authors: Yongan Tian, Hongen Xu, Danhua Liu, Juanli Zhang, Zengguang Yang, Sen Zhang, Huanfei Liu, Ruijun Li, Yingtao Tian, Beiping Zeng, Tong Li, Qianyu Lin, Haili Wang, Xiaohua Li, Wei Lu, Ying Shi, Yan Zhang, Hui Zhang, Chang Jiang, Ying Xu, Bei Chen, Jun Liu, Wenxue Tang
Format: Article
Language:English
Published: Wiley 2021-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
enlarged vestibular aqueduct
multiplex PCR
pathogenic variants
SLC26A4
Online Access:https://doi.org/10.1002/mgg3.1734

Internet

https://doi.org/10.1002/mgg3.1734

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