Article
Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women.
Clinical genetics - 1 Apr 2021
Wu Ling, Li Menghui, Yin Mingru, Ou Yangjie, Yan Zhiguang, Kuang Yanping, Yan Zheng, Li Bin
Abstract excerpt
Empty follicle syndrome (EFS) is a serious and complex reproductive complication for infertile women suffering from the recurrent failure of oocyte retrieval in an in vitro fertilization procedure, and its pathogenesis remains obscure. Increasing evidence highlights the genetic basis of EFS occurrence. In this study, we identified two novel missense mutations (c.1127G > A, p.C376Y and c.325C > T, p.R109C), two...
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