Identification of a novel mutation in EXT2 in a fourth‐generation Korean family with multiple osteochondromas and overview of mutation spectrum

Multiple osteochondromas (MOs) or hereditary multiple exostoses is a rare autosomal‐dominant disease characterized by growths of MOs, which are benign cartilage‐capped bone tumors that grow away from the growth plates. Almost 90% of MOs have a molecular explanation and 10% are unexplained. MOs are genetically heterogeneous with two causal genes on 8q24.11 ( EXT1 ) and 11p12 ( EXT2 ), with a higher frequency in EXT1 . MO is a very rare genetic...