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A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
OBJECTIVES: We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female with bilateral profound HL and an 11-year-old male with bilateral moderately severe HL. METHODS:...
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| Publicado en: | Clin Exp Otorhinolaryngol |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Korean Society of Otorhinolaryngology-Head and Neck Surgery
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5327591/ https://ncbi.nlm.nih.gov/pubmed/27384033 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21053/ceo.2016.00430 |
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