A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.
Li Juan XuZhi Gang LvYing LiuXiang Xiang ZhangYu Xin CuiXiao Chun LiYi Jun ZhuJie HePublished in: European journal of ophthalmology (2020)
One missense mutation c.563G > A is reported in the CRYBB2 gene among one Chinese family suffering from early-onset cataract, and associated novel phenotypes are the elongation of axial length and the types of cataract. Our results expand the spectrum of associated phenotypes of CRYBB2 mutation.