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Thirteen Chinese patients with sporadic Paget’s disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis (Med Worm)
Abstract To increase awareness of the rarity of Paget’s disease of bone (PDB)
in the Chinese population, we characterized the clinical manifestations and
features of 13 Chinese sporadic PDB patients. The clinical features of our
Chinese PDB patients show similarities with cases reported in Western
countries. The most common lesion sites were the pelvis, femur, and tibia; the
next most common lesion sites were the spine and skull. Most patients had a
higher serum alkaline phosphatase (ALP) level. Treatment with bisphosphonates
was effective. In addition, we screened for PDB-causing mutations and
performed a functional analysis in an attempt to elucidate the molecular
pathogenesis of PDB. A total of 216 persons, including 13 sporadic PDB
patients, three unaffected relatives...
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