Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
体细胞嵌合型 IDH1 和 IDH2 突变与 Ollier 病和 Maffucci 综合征中的软骨瘤和梭形细胞血管瘤相关。
期刊:Nature Genetics
影响因子:29
doi:10.1038/ng.1004
Pansuriya, Twinkal C; van Eijk, Ronald; d'Adamo, Pio; van Ruler, Maayke A J H; Kuijjer, Marieke L; Oosting, Jan; Cleton-Jansen, Anne-Marie; van Oosterwijk, Jolieke G; Verbeke, Sofie L J; Meijer, Daniëlle; van Wezel, Tom; Nord, Karolin H; Sangiorgi, Luca; Toker, Berkin; Liegl-Atzwanger, Bernadette; San-Julian, Mikel; Sciot, Raf; Limaye, Nisha; Kindblom, Lars-Gunnar; Daugaard, Soeren; Godfraind, Catherine; Boon, Laurence M; Vikkula, Miikka; Kurek, Kyle C; Szuhai, Karoly; French, Pim J; Bovée, Judith V M G