Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Schinzel-Giedion 综合征和血液系统恶性肿瘤中 SETBP1 功能获得性突变的重叠
期刊:PLoS Genetics
影响因子:3.7
doi:10.1371/journal.pgen.1006683
Acuna-Hidalgo Rocio, Deriziotis Pelagia, Steehouwer Marloes, Gilissen Christian, Graham Sarah A, van Dam Sipko, Hoover-Fong Julie, Telegrafi Aida B, Destree Anne, Smigiel Robert, Lambie Lindsday A, Kayserili Hülya, Altunoglu Umut, Lapi Elisabetta, Uzielli Maria Luisa, Aracena Mariana, Nur Banu G, Mihci Ercan, Moreira Lilia M A, Borges Ferreira Viviane, Horovitz Dafne D G, da Rocha Katia M, Jezela-Stanek Aleksandra, Brooks Alice S, Reutter Heiko, Cohen Julie S, Fatemi Ali, Smitka Martin, Grebe Theresa A, Di Donato Nataliya, Deshpande Charu, Vandersteen Anthony, Marques Lourenço Charles, Dufke Andreas, Rossier Eva, Andre Gwenaelle, Baumer Alessandra, Spencer Careni, McGaughran Julie, Franke Lude, Veltman Joris A, De Vries Bert B A, Schinzel Albert, Fisher Simon E, Hoischen Alexander, van Bon Bregje W