Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts

• Main Authors: Xiaohui He (Author), Shaozhi Zhao (Author), Lin Shi (Author), Yitong Lu (Author), Yintong Yang (Author), Xinwen Zhang (Author)
• Format: Book
• Published: BMC, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background To investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed. SLC26A4 gene is closely associated with EVA and its homozygous mutations or compound heterozygous mutations may cause...