Advances in the genetics of Paget’s disease of bone: from pathophysiology, diagnosis to clinical implications

Introduction Paget's Disease of Bone (PDB) is a chronic, late-onset skeletal disorder characterized by highly localized regions of increased bone resorption, accompanied by excessive and abnormal new bone formation. Consequently, PDB serves as a crucial model for elucidating the genetic and molecular mechanisms governing both abnormal osteoclast formation and osteoclast-induced osteoblast/osteocyte activities.