A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family by Zhi-Bo Lin, Chun-Yun Feng, Jin Li, An-Peng Pan, Hai-Sen Sun, A-Yong Yu, Shi-Hao Chen

Get full text

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family by Zhi-Bo Lin, Zhen-Ji Chen, Hui Yang, Xing-Ru Ding, Jin Li, An-Peng Pan, Hai-Sen Sun, A.-Yong Yu, Shi-Hao Chen

Get full text

Identification of mutations associated with congenital cataracts in nineteen Chinese families by Hai-Sen Sun, Teng Huang, Zhe-Xuan Liu, Yi-Tong Xu, Ya-Qi Wang, Ming-Cheng Wang, Shen-Rong Zhang, Jia-Lin Xu, Kai-Yi Zhu, Wen-Kai Huang, Xiu-Feng Huang, Jin Li

Get full text