A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS).
Qianhua XuXiaoli ZhuMadiha MaqsoodWenqing LiXianhong TongShuai KongFengsong WangXiaoman LiuZhaolian WeiZhiguo ZhangFuxi ZhuYunxia CaoJianqiang BaoPublished in: Molecular genetics & genomic medicine (2020)
Together, our data further expand the spectrum of ZP1 mutations that are associated with human EFS and thus provide novel insight into the diagnosis of EFS patients.