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

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 deafnes...

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Detalles Bibliográficos
Autores principales:	He, Xiaohui, Zhao, Shaozhi, Shi, Lin, Lu, Yitong, Yang, Yintong, Zhang, Xinwen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270741/ https://www.ncbi.nlm.nih.gov/pubmed/35804348 http://dx.doi.org/10.1186/s12920-022-01271-3

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