A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

@inproceedings{Zhou2016ANC,
  title={A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family},
  author={Yu Zhou and Yaru Zhai and Lulin Huang and B L Gong and Jie Li and Fang Hao and Zhengzheng Wu and Yi Shi and Yin Yang},
  booktitle={Journal of ophthalmology},
  year={2016}
}
Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete… CONTINUE READING