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• W2138568520 abstract "Summary Paget’s disease of bone (PDB) is a common metabolic bone disease characterised by focal areas of increased bone turnover affecting one or more bones throughout the skeleton, accompanied by bone pain, bone deformity and an increased susceptibility to fracture.The cause of PDB is unclear but there is considerable evidence for a genetic etiology, including familial clustering and ethnic differences in frequency.A number of other skeletal disorders have also been described which are clinically quite similar to PDB, though they are usually characterized by a more severe bone phenotype.The genetic causes of several of these PDB-like disorders have been elucidated and have provided clues to the causes of PDB and prompted new avenues of investigation.In some cases, the genes that cause these PDB-like disorders have been found to have no effect on PDB risk, and in others they have been found to confer mildly increased risk.With the emergence of the SQSTM1 gene as a common cause of PDB, common molecular pathways involved i n PDB and PDB-like disorders are emerging, and these are providing intrigueing new possibilities for investigating the underlying molecular defect that leads to P D B ." @default.
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• W2138568520 date "2004-01-01" @default.
• W2138568520 modified "2023-09-27" @default.
• W2138568520 title "Genetics of Paget's disease of bone-like disorders" @default.
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