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...

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Detalles Bibliográficos
Autores principales: Huang, Yunhua, Li, Linlin, Pan, Liqiu, Ling, Xiaoting, Wang, Chenghan, Huang, Chaoyu, Huang, Yifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512862/
https://www.ncbi.nlm.nih.gov/pubmed/37745850
http://dx.doi.org/10.3389/fgene.2023.1240701

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512862/
https://www.ncbi.nlm.nih.gov/pubmed/37745850
http://dx.doi.org/10.3389/fgene.2023.1240701

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