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KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole.
Fatemi N, Ray PF, Ramezanali F, Shahani T, Amiri-Yekta A, Kherraf ZE, Cazin C, Almadani N, Varkiani M, Sarmadi S, Sodeifi N, Gourabi H, Biglari A, Totonchi M. Fatemi N, et al. Among authors: varkiani m. Eur J Obstet Gynecol Reprod Biol. 2021 Apr;259:100-104. doi: 10.1016/j.ejogrb.2021.02.006. Epub 2021 Feb 10. Eur J Obstet Gynecol Reprod Biol. 2021. PMID: 33639414
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.
Fatemi N, Salehi N, Pignata L, Palumbo P, Cubellis MV, Ramazanali F, Ray P, Varkiani M, Reyhani-Sabet F, Biglari A, Sparago A, Acurzio B, Palumbo O, Carella M, Riccio A, Totonchi M. Fatemi N, et al. Among authors: varkiani m. J Med Genet. 2021 Nov;58(11):783-788. doi: 10.1136/jmedgenet-2020-106909. Epub 2020 Sep 16. J Med Genet. 2021. PMID: 32938693 Free PMC article.