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A novel homozygous variant in ZFP36L2 cause female infertility due to oocyte maturation defect.

Clinical genetics - 1 Oct 2023

Zhou Zhou, Fan Huizhen, Shi Rong, Zeng Yang, Liu Ruyi, Gu Hao, Li Qiaoli, Sang Qing, Wang Lei, Shi Juanzi, Chen Biaobang

Abstract excerpt

Normal oocyte maturation is an important requirement for the success of human reproduction, and defects in this process will lead to female infertility and repeated IVF/ICSI failures. In order to identify genetic factors that are responsible for oocyte maturation defect, we used whole exome sequencing in the affected individual with oocyte maturation defect from a consanguineous family and identified a homozygous...

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PMID: 37211617
DOI: 10.1111/cge.14362

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