A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS).,Molecular Genetics & Genomic Medicine

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A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS).
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-04-23 , DOI: 10.1002/mgg3.1269
Qianhua Xu _{1,

2,

3} , Xiaoli Zhu ₄ , Madiha Maqsood ₄ , Wenqing Li ₄ , Xianhong Tong ₄ , Shuai Kong ₅ , Fengsong Wang ₅ , Xiaoman Liu ₄ , Zhaolian Wei _{1,

2,

3} , Zhiguo Zhang _{1,

2,

3} , Fuxi Zhu _{1,

2,

3} , Yunxia Cao _{1,

2,

3} , Jianqiang Bao ₄

Affiliation

Empty follicle syndrome (EFS) is a rare but severe condition in which no oocyte is recovered in female patients undergoing in vitro fertilization (IVF) after sufficient ovarian response to hormonal trigger. Accumulating evidence highlights the genetic basis of EFS occurrence.

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