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 2012 Dec .
Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors.
The Journal of bone and joint surgery. American volume 2011 Dec 93 (24): 2294-302.
Pedrini Elena, Jennes Ivy, Tremosini Morena, Milanesi Annamaria, Mordenti Marina, Parra Alessandro, Sgariglia Federica, Zuntini Monia, Campanacci Laura, Fabbri Nicola, Pignotti Elettra, Wuyts Wim, Sangiorgi Lu