Article
Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2021
Wei Zhe, Li Shanshan, Tao Xiaohui, Zhu Guoying, Sun Zhenkui, Wei Zhanying, Jiao Qiong, Zhang Huizhen, Chen Lin, Li Baojie, Zhang Zhenlin, Yue Hua
Abstract excerpt
Paget's disease of bone (PDB) is a late-onset chronic progressive bone disease characterized by abnormal activation of osteoclasts that results in bone pain, deformities, and fractures. PDB is very rare in Asia. A subset of PDB patients have early onset and can develop malignant giant cell tumors (GCTs) of the bone (PDB/GCTs), which arise within Paget bone lesions; the result is a significantly higher mortality...
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