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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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| Publié dans: | Eur J Hum Genet |
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| Auteurs principaux: | , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Springer International Publishing
2018
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| Sujets: | |
| Accès en ligne: | 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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