Mutations in PIKFYVE cause autosomal dominant congenital cataract
Shaoyi Mei, Yi Wu, Yan Wang, Yubo Cui, Miao Zhang, Tong Zhang, Xiaosheng Huang, Sejie Yu, Tao Yu, Jun Zhao
The paper identifies a mutation in PIKFYVE as a cause of congenital cataract and shows that Baf-A1 treatment alleviates the defect in zebrafish models.
eLife · Jan 4, 2022Peer-reviewedGenomics