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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Vydáno v:Clin Exp Otorhinolaryngol
Hlavní autoři: Sagong, Borum, Baek, Jeong-In, Lee, Kyu-Yup, Kim, Un-Kyung
Médium: Artigo
Jazyk:Inglês
Vydáno: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2017
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Original Article
On-line přístup: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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