Article
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
Human mutation - 1 Dec 2009
Jennes Ivy, Pedrini Elena, Zuntini Monia, Mordenti Marina, Balkassmi Sahila, Asteggiano Carla G, Casey Brett, Bakker Bert, Sangiorgi Luca, Wuyts Wim
Abstract excerpt
Multiple osteochondromas (MO) is an autosomal dominant skeletal disease characterized by the formation of multiple cartilage-capped bone tumors growing outward from the metaphyses of long tubular bones. MO is genetically heterogeneous, and is associated with mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2), both tumor-suppressor genes of the EXT gene family. All members of this multigene family encode...
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