A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

BACKGROUND: The enlarged vestibular aqueduct (EVA), associated with mutations in the SLC26A4 gene, characterized by non-syndromic hearing loss, is an autosomal recessive disorder. Here, we intended to investigate genetic causes of hearing loss in a Han Chinese man. METHOD: First, whole-exome sequenc...

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Detalles Bibliográficos
Autores principales: Wu, Ting, Cui, Limei, Mou, Yakui, Guo, Wentao, Liu, Dawei, Qiu, Jingjing, Xu, Cong, Zhou, Jiamin, Han, Fengchan, Sun, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898487/
https://www.ncbi.nlm.nih.gov/pubmed/35249537
http://dx.doi.org/10.1186/s12920-022-01200-4

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