Article
Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.
Genes, chromosomes & cancer - 1 Sept 2011
Pansuriya Twinkal C, Oosting Jan, Verdegaal Suzan H M, Flanagan Adrienne M, Sciot Raf, Kindblom Lars-Gunnar, Hogendoorn Pancras C W, Szuhai Karoly, Bovée Judith V M G
Abstract excerpt
Ollier disease and Maffucci syndrome are rare, nonhereditary skeletal disorders characterized by the presence of multiple enchondromas with (Maffucci) or without (Ollier) co-existing multiple hemangiomas of soft tissue. Enchondromas can progress toward central chondrosarcomas. PTH1R mutations are found in a small subset of Ollier patients. The genetic deficit in Maffucci syndrome is unknown. Here, we report the...
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