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TITLE: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. MLL2 mutation detection in 86 patients with Kabuki syndrome Full Text
AUTHORS: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodriguez Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; M. Cueto Gonzalez; Cusco, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galan, E; Gener, B; Gilissen, C; Granneman, SM; Hoyer, J; Yntema, HG; Kets, CM; Koolen, DA; Marcelis, CL; Medeira, A; Micale, L; Mohammed, S; de Munnik, SA; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp Versteeg, M; G. Santos; Schoumans, J; Schuurs Hoeijmakers, JHM; Silengo, MC; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, RC; Perez Jurado, L; Dupont, J; de Vries, BBA; Brunner, HG; Veltman, JA; Merla, G; Antonarakis, SE; Hoischen, A; ...More
PUBLISHED: 2013, SOURCE: CLINICAL GENETICS, VOLUME: 84, ISSUE: 6

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