De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
Pediatric Reports
Siano, Maria Anna MA; De Maggio, Ilaria I; Petillo, Roberta R; Cocciadiferro, Dario D; Agolini, Emanuele E; Majolo, Massimo M; Novelli, Antonio A; Della Monica, Matteo M; Piscopo, Carmelo C
Publication Date: 2022-03-11
Variant appearance in text: KMT2C: 9244C>T; Pro3082Ser
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E