Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

• Main Authors: Mun Young Chang (Author), Chung Lee (Author), Jin Hee Han (Author), Min Young Kim (Author), Hye-Rim Park (Author), Nayoung Kim (Author), Woong-Yang Park (Author), Doo Yi Oh (Author), Byung Yoon Choi (Author)
• 格式: 图书
• 出版: BMC, 2018-02-01T00:00:00Z.
• 主题: article
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Abstract Background MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation in early childhood. Recently, such variants have also been shown to pos...