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A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility

PURPOSE: We aimed to identify pathogenic variants in two infertile sisters in a family with a thin zona pellucida (ZP) phenotype. METHODS: Whole-exome sequencing was performed in the two affected sisters, and Sanger sequencing was used to confirm the identified variants. The effects of the identifie...

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Библиографические подробности
Опубликовано в: :J Assist Reprod Genet
Главные авторы: Sun, Yiming, Zeng, Yang, Chen, Hua, Zhou, Zhou, Fu, Jing, Sang, Qing, Wang, Lei, Sun, Xiaoxi, Chen, Biaobang, Xu, Congjian
Формат: Artigo
Язык:Inglês
Опубликовано: Springer US 2021
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8190198/
https://ncbi.nlm.nih.gov/pubmed/33604805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-021-02107-2
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