Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5714661 | International Journal of Pediatric Otorhinolaryngology | 2017 | 5 Pages |
Abstract
This study demonstrates that the novel mutation c.1742Â GÂ >Â T (p.Arg581Met) in compound heterozygosity with c.589Â GÂ >Â A in the SLC26A4 gene is the main cause of deafness in a family clinically diagnosed with enlarged vestibular aqueduct (EVA). Our study will provide a basic foundation for further investigations to elucidate the SLC26A4-related mechanisms of hearing loss.
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Authors
Xiaoguang He, Qi Peng, Siping Li, Pengyuan Zhu, Chunqiu Wu, Chunbao Rao, Jiang Chang, Mingyu Xie, Baimao Zhong, Xiaomei Lu,