• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=22928481).
  
• Mutation; HGNC; HGNC:5382; IDH1; Simple; p.Arg132Cys (c.394C>T); ClinVar=VCV000375891; Zygosity=Heterozygous (PubMed=22928481).
  

PubMed=22057234; DOI=10.1038/ng.1004; PMCID=PMC3427908
Twinkal Marfatia, Ronald van Eijk, Pio d'Adamo, Maayke A.J.H. van Ruler, Marieke Lydia Kuijjer, Jan Oosting, Anne-Marie Cleton-Jansen, Jolieke G. van Oosterwijk, Sofie L.J. Verbeke, Danielle Meijer, Tom van Wezel ...Show all 27 authors... , Karolin H. Nord, Luca Sangiorgi, Berkin Toker, Bernadette Liegl-Atzwanger, Mikel San-Julian, Raf Sciot, Nisha Limaye, Lars-Gunnar Kindblom, Soeren Daugaard, Catherine Godfraind, Laurence M. Boon, Miikka Vikkula, Kyle C. Kurek, Karoly Szuhai, Pim J. French, Judith Veronica Maria Geeske Bovee; Show fewer authors
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
Nat. Genet. 43:1256-1261(2011)

PubMed=22928481; DOI=10.1186/1471-2407-12-375; PMCID=PMC3484068
Jolieke G. van Oosterwijk, Danielle de Jong, Maayke A.J.H. van Ruler, Pancras Cornelis Wilhelmus Hogendoorn, Pieter Durk Sander Dijkstra, Carla S.P. van Rijswijk, Isidro Machado, Antonio Llombart-Bosch, Karoly Szuhai, Judith Veronica Maria Geeske Bovee;
Three new chondrosarcoma cell lines: one grade III conventional central chondrosarcoma and two dedifferentiated chondrosarcomas of bone.
BMC Cancer 12:375.1-375.10(2012)