Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous IDH1 (R132C and R132H) or IDH2 (R172S) mutations in 87% of enchondromas, benig...

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Päätekijät: Pansuriya, Twinkal C., van Eijk, Ronald, Adamo, Pio d', 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2011
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3427908/
https://ncbi.nlm.nih.gov/pubmed/22057234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.1004
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