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

• Автори: Qiong Li (Автор), Shujuan Wang (Автор), Pengfei Liang (Автор), Wei Li (Автор), Jian Wang (Автор), Bei Fan (Автор), Yang Yang (Автор), Xiaogang An (Автор), Jun Chen (Автор), Dingjun Zha (Автор)
• Формат: Книга
• Опубліковано: BMC, 2022-07-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...