Article
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Gene - 25 Feb 2013
Ciavarella Michele, Coco Michelina, Baorda Filomena, Stanziale Pietro, Chetta Massimiliano, Bisceglia Luigi, Palumbo Pietro, Bengala Mario, Raiteri Paola, Silengo Margherita, Caldarini Camilla, Facchini Renato, Lala Roberto, Cavaliere Maria Luigia, De Brasi Davide, Pasini Barbara, Zelante Leopoldo, Guarnieri Vito, D'Agruma Leonardo
Abstract excerpt
BACKGROUND: Hereditary multiple exostosis represents the most frequent bone tumor disease in humans. It consists of cartilage deformities affecting the juxta-ephyseal region of long bones. Usually benign, exostosis could degenerate in malignant chondrosarcoma form in less than 5% of the cases. Being caused by mutations in the predicted tumor suppressor genes, EXT1 (chr 8q23-q24) and EXT2 (chr 11p11-p12) genes,...
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