Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.
Geng LuoLixia ZhuZhenxing LiuXue YangQingsong XiZhou LiJinliang DuanLei JinXianqin ZhangPublished in: Journal of assisted reproduction and genetics (2020)
Our findings expand the mutational spectrum of ZP1 and ZP2 genes associated with EFS and abnormal oocytes and provide new support for the genetic diagnosis of female infertility.