Article
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
Scientific reports - 1 Jan 2013
Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca M A, Nevado J, Lapunzina P, Asteggiano C G, Balcells S, Grinberg D
Abstract excerpt
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype...
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