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• W2950647587 abstract "Abstract Enlarged vestibular aqueduct (EVA) is a radiologic malformation of the inner ear most commonly seen in children with sensorineural hearing loss. Most cases of EVA with hearing loss are caused by biallelic mutations of SLC26A4 . In this review, we discuss the potential mechanisms underlying the pathogenesis of hearing loss with EVA due to malfunction of SLC26A4 , the detection rates of SLC26A4 mutations in EVA patients from different populations, and the role of other genetic factors (eg, mutations in FOXI1 and KCNJ10 ) as etiologic contributors to EVA. Elucidating the molecular etiology of EVA-associated hearing loss may facilitate genetic counseling and lead to potential therapeutic strategies." @default.
• W2950647587 created "2019-06-27" @default.
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• W2950647587 date "2019-06-19" @default.
• W2950647587 modified "2023-10-12" @default.
• W2950647587 title "Molecular basis of hearing loss associated with enlarged vestibular aqueduct" @default.
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• W2950647587 doi "https://doi.org/10.1097/jbr.0000000000000032" @default.
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