• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=22928481).
  
• Mutation; HGNC; HGNC:5383; IDH2; Simple; p.Arg172Trp (c.514A>T); ClinVar=VCV000376438; Zygosity=Heterozygous (PubMed=22057234; PubMed=22928481).
  

PubMed=22057234; DOI=10.1038/ng.1004; PMCID=PMC3427908
Marfatia T., van Eijk R., d'Adamo P., van Ruler M.A.J.H., Kuijjer M.L., Oosting J., Cleton-Jansen A.-M., van Oosterwijk J.G., Verbeke S.L.J., Meijer D., van Wezel T., Nord K.H., Sangiorgi L., Toker B., Liegl-Atzwanger B., San-Julian M., Sciot R., Limaye N., Kindblom L.-G., Daugaard S., Godfraind C., Boon L.M., Vikkula M., Kurek K.C., Szuhai K., French P.J., Bovee J.V.M.G.
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
van Oosterwijk J.G., de Jong D., van Ruler M.A.J.H., Hogendoorn P.C.W., Dijkstra P.D.S., van Rijswijk C.S.P., Machado I., Llombart-Bosch A., Szuhai K., Bovee J.V.M.G.
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)