A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.

Jing WangXiaoyu YangXueping SunLong MaYaoxue YinGuoxiang HeYuan ZhangJie ZhouLingbo CaiJiayin LiuXiang Ma

Published in: Journal of assisted reproduction and genetics (2021)

The novel mutation in ZP1 is a genetic cause of female infertility characterized by EFS. Our finding expands the genetic spectrum for EFS and will help justify the EFS diagnosis in patients.

Keyphrases

end stage renal disease
endothelial cells
ejection fraction
genome wide
newly diagnosed
chronic kidney disease
prognostic factors
copy number
peritoneal dialysis
gene expression
metabolic syndrome
dna methylation
induced pluripotent stem cells
adipose tissue