A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.,Molecular Genetics & Genomic Medicine

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A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-08-07 , DOI: 10.1002/mgg3.1447
Kai Zhou _{1,

2} , Lancheng Huang _{1,

2} , Menglong Feng _{1,

3} , Xinlei Li ₄ , Yi Zhao ₄ , Fei Liu ₅ , Jiazhang Wei ₁ , Danxue Qin ₁ , Qiutian Lu ₁ , Min Shi ₁ , Shenhong Qu ₁ , Fengzhu Tang ₁

Affiliation

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.

更新日期：2020-10-12

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