Article
Identification of zona pellucida defects revealed a novel loss-of-function mutation in ZP2 in humans and rats.
Frontiers in endocrinology - 1 Jan 2023
Zeng Jun, Sun Ying, Zhang Jing, Wu Xiaozhu, Wang Yan, Quan Ruping, Song Wanjuan, Guo Dan, Wang Shengran, Chen Jianlin, Xiao Hongmei, Huang Hua-Lin
Abstract excerpt
Introduction: Human zona pellucida (ZP) plays an important role in reproductive process. Several rare mutations in the encoding genes (ZP1, ZP2, and ZP3) have been demonstrated to cause women infertility. Mutations in ZP2 have been reported to cause ZP defects or empty follicle syndrome. We aimed to identify pathogenic variants in an infertile woman with a thin zona pellucida (ZP) phenotype and investigated the...
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