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Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

Recurrent hydatidiform moles (RHM) are aberrant human pregnancies characterized by absence of, or abnormal, embryonic development, hydropic degeneration of chorionic villi, and hyperproliferation of the trophoblast. Biallelic mutations in two maternal-effect genes, NLRP7 and KHDC3L, underlie the cau...

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Foilsithe in:Eur J Hum Genet
Main Authors: Qian, JianHua, Nguyen, Ngoc Minh Phuong, Rezaei, Maryam, Huang, Bo, Tao, YongLing, Zhang, XiaoFei, Cheng, Qi, Yang, HanJin, Asangla, Ao, Majewski, Jacek, Slim, Rima
Formáid: Artigo
Teanga:Inglês
Foilsithe: Springer International Publishing 2018
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6018785/
https://ncbi.nlm.nih.gov/pubmed/29693651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0141-3
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