A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)

A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)
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DOI:
10.1002/mgg3.1269
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发表时间:
2020-04
影响因子:
2
通讯作者:
Qianhua Xu;Xiaoli Zhu;M. Maqsood;Wenqing Li;X. Tong;Shuai Kong;Fengsong Wang;Xiaoman Liu
Qianhua Xu;Xiaoli Zhu;M. Maqsood;Wenqing Li;X. Tong;Shuai Kong;Fengsong Wang;Xiaoman Liu
中科院分区:
医学4区
文献类型:
--
作者:
Qianhua Xu;Xiaoli Zhu;M. Maqsood;Wenqing Li;X. Tong;Shuai Kong;Fengsong Wang;Xiaoman Liu

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空卵泡综合征(EFS)是一种罕见但严重的疾病,在接受体外受精(IVF)的女性患者中,卵巢对激素触发有足够的反应后,没有卵母细胞被回收。越来越多的证据强调了EFS发生的遗传基础。
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.