Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the <i>TNFRSF11A</i> gene

Abstract excerpt

Familial expansile osteolysis (FEO) is a rare autosomal dominant disorder resembling Paget’s disease of bone (PDB), characterised by osteolytic lesions. These are mainly located in the long bones and spare the axial skeleton. Progressive osteoclastic resorption accompanied by medullar expansion leads to severe, painful, disabling deformity and a tendency to pathological fracture. Characteristically, FEO is...

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