A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family

• Main Authors: Qiong Li (Author), Shujuan Wang (Author), Pengfei Liang (Author), Wei Li (Author), Jian Wang (Author), Bei Fan (Author), Yang Yang (Author), Xiaogang An (Author), Jun Chen (Author), Dingjun Zha (Author)
• Formato: Livro
• Publicado em: BMC, 2022-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background The most frequent clinical presentation of autosomal dominant nonsyndromic hearing loss (ADNSHL) is bilateral, symmetrical, postlingual progressive sensorineural hearing loss, which begins with impairment at high frequencies and eventually progresses to hearing loss at all freque...