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A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts

BACKGROUND: Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants. METHODS: We collected blood samples and cli...

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Detalles Bibliográficos
Autores principales:	Zhou, Kai, Huang, Lancheng, Feng, Menglong, Li, Xinlei, Zhao, Yi, Liu, Fei, Wei, Jiazhang, Qin, Danxue, Lu, Qiutian, Shi, Min, Qu, Shenhong, Tang, Fengzhu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549568/ https://www.ncbi.nlm.nih.gov/pubmed/32770655 http://dx.doi.org/10.1002/mgg3.1447

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