A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death.

Juepu Zhou Meng WangJuan HuZhou LiLixia Zhu Lei Jin

Published in: Journal of assisted reproduction and genetics (2022)

Our findings expand the variant spectrum of PANX1 genes associated with oocyte death and provide new support for the genetic diagnosis of female infertility.

Keyphrases

polycystic ovary syndrome
early onset
genome wide
copy number
metabolic syndrome