ロード中...
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:...
保存先:
| 出版年: | Clin Exp Otorhinolaryngol |
|---|---|
| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Korean Society of Otorhinolaryngology-Head and Neck Surgery
2017
|
| 主題: | |
| オンライン・アクセス: | 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 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|