Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review

Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review

Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese patient with non-syndromic enlarged vestibular aqueduct (NSEVA) and to investigate the...

Full description

Bibliographic Details
Main Authors: Yunhua Huang, Linlin Li, Liqiu Pan, Xiaoting Ling, Chenghan Wang, Chaoyu Huang, Yifang Huang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Genetics
Subjects:
non-syndromic enlarged vestibular aqueduct
SLC26A4
compound mutations
sensorineural hearing loss
pendrin
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1240701/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1240701/full

Similar Items