Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9
与MCM8和MCM9基因双等位基因种系变异相关的临床综合征
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100480
Helderman, Noah C; Yang, Ting; Palles, Claire; Terlouw, Diantha; Mei, Hailiang; Vorderman, Ruben H P; Cats, Davy; Díaz-Gay, Marcos; Jongmans, Marjolijn C J; Ramdien, Ashwin; van de Beek, Irma; Eleveld, Thomas F; Green, Andrew; Hes, Frederik J; van den Heuvel-Eibrink, Marry M; Van Der Kelen, Annelore; Kliesch, Sabine; Kuiper, Roland P; Lakeman, Inge M M; Lashley, Lisa E E L O; Looijenga, Leendert H J; Oud, Manon S; Steingröver, Johanna; Tenenbaum-Rakover, Yardena; Tops, Carli M; Tüttelmann, Frank; de Voer, Richarda M; Westra, Dineke; Wyrwoll, Margot J; Golubicki, Mariano; Antelo, Marina; Bonjoch, Laia; Terradas, Mariona; Valle, Laura; Alexandrov, Ludmil B; Morreau, Hans; van Wezel, Tom; Castellví-Bel, Sergi; Goldberg, Yael; Nielsen, Maartje