Article
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
American journal of human genetics - 1 Feb 1998
Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke H J, Sayli B S, Pazzaglia U E, Mortier G, Hamel B, Conrad E U, Matsushita M, Raskind W H, Willems P J
Abstract excerpt
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering complications caused by the pressure of these exostoses on the surrounding tissues, EXT patients are at an increased risk for malignant chondrosarcoma, which may develop from an exostosis. EXT is genetically heterogeneous,...
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