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TÍTULO: Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
AUTORES: Kaiser, FJ; Ansari, M; Braunholz, D; Gil Rodriguez, MC; Decroos, C; Wilde, JJ; Fincher, CT; Kaur, M; Bando, M; Amor, DJ; Atwal, PS; Bahlo, M; Bowman, CM; Bradley, JJ; Brunner, HG; Clark, D; Campo, MD; Di Donato, N; Diakumis, P; Dubbs, H; Dyment, DA; Eckhold, J; Ernst, S; Ferreira, JC; Francey, LJ; Gehlken, U; Guillen Navarro, E; Gyftodimou, Y; Hall, BD; Hennekam, R; Hudgins, L; Hullings, M; Hunter, JM; Yntema, H; Innes, AM; Kline, AD; Krumina, Z; Lee, H; Leppig, K; Lynch, SA; Mallozzi, MB; Mannini, L; Mckee, S; Mehta, SG; Micule, I; Consortium, CC; Mohammed, S; Moran, E; Mortier, GR; Moser, JAS; Noon, SE; Nozaki, N; Nunes, L; Pappas, JG; Penney, LS; Perez Aytes, A; Petersen, MB; Puisac, B; Revencu, N; Roeder, E; Saitta, S; Scheuerle, AE; Schindeler, KL; Siu, VM; Stark, Z; Strom, SP; Thiese, H; Vater, I; Willems, P; Williamson, K; Wilson, LC; Hakonarson, H; Quintero Rivera, F; Wierzba, J; Musio, A; Gillessen Kaesbach, G; Ramos, FJ; Jackson, LG; Shirahige, K; Pie, J; Christianson, DW; Krantz, ID; Fitzpatrick, DR; Deardorff, MA; ...Mais
PUBLICAÇÃO: 2014, FONTE: HUMAN MOLECULAR GENETICS, VOLUME: 23, NÚMERO: 11
INDEXADO EM: Scopus WOS CrossRef