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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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| 出版年: | Eur J Hum Genet |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer International Publishing
2018
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| 主題: | |
| オンライン･アクセス: | 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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