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

• Κύριοι συγγραφείς: Xiaohui He (Συγγραφέας), Shaozhi Zhao (Συγγραφέας), Lin Shi (Συγγραφέας), Yitong Lu (Συγγραφέας), Yintong Yang (Συγγραφέας), Xinwen Zhang (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2022-07-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...