Article ID Journal Published Year Pages File Type
8806334 International Journal of Pediatric Otorhinolaryngology 2018 4 Pages PDF
Abstract
This study demonstrates that the novel mutation c.2110 G > C (p.Glu704Gln) in compound heterozygosity with c.1673 A > T (p.Asn558Ile) in the SLC26A4 gene corresponds to the EVA in this family. Our study will provide a foundation for elucidating the SLC26A4-related mechanisms of hearing loss.
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Related Topics
Health Sciences Medicine and Dentistry Otorhinolaryngology and Facial Plastic Surgery
Preview
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct
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