EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families.

Penghui Chen,Haijin Liu,Yun Lin,Jun Xu,Weidong Zhu,Hao Wu,Tao Yang

International Journal of Pediatric Otorhinolaryngology（2019）

引用 13|浏览11

暂无评分

摘要

Our results supported the heterogeneity of the genetic and phenotypic spectrum of BO syndrome. The recurrent c.967-2A>G in different ethnical groups suggested that it is a hot-spot mutation.

查看译文

关键词

Branchio-Oto syndrome,EYA1,Mutation,Targeted next-generation sequencing,Chinese Hans

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要