Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome - 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; et al. (Nature genetics, 2011)
Keywords: 631/208/2489/144/68; 692/699/67/1344; Adult; Agriculture; Animal Genetics and Genomics; Basic Medicine; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Care and treatment; Case-Control Studies; Cell Line, Tumor; Complications and side effects; Deoxyribonucleic acid; Diagnosis; Disease; Diseases of the osteoarticular system; DNA; DNA Methylation; Enchondromatosis - genetics; Female; Fundamental and applied biological sciences. Psychology; Gene Expression Profiling; Gene Expression Regulation; Gene Function; Gene mutations; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Hemangioma; Human Genetics; Humans; Isocitrate dehydrogenase; Isocitrate Dehydrogenase - genetics; Lesions; letter; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical and Health Sciences; Medical Genetics; Medical Genetics and Genomics (including Gene Therapy); Medical sciences; Medicin och hälsovetenskap; Medicinsk genetik; Medicinsk genetik och genomik (Här ingår: Genterapi); Medicinska och farmaceutiska grundvetenskaper; Middle Aged; Mosaicism; Musculoskeletal diseases; Mutation; Mutation, Missense; Physiological aspects; Risk factors; Sequence Analysis, DNA; Transcription, Genetic; Tumors; Tumors of striated muscle and skeleton; Young Adult; Belgium; Italy; Spain; Skin disease; Diseases of the osteoarticular system; Cardiovascular disease; Enchondroma; Congenital disease; Vascular disease; Osteoarticular system; Angioma; Chondroma; Syndrome de Maffucci; Benign neoplasm; Mutation; Bone; Osteochondrodysplasia