摘要
Progressive pseudorheumatoid dysplasia(PPD,MIM 603400)is a rare autosomal recessive skeletal disorder that profoundly impairs joint function and diminishes quality of life.It is characterized by disproportionate short stature,extensive cartilage damage,and progressive joint enlargement symptoms typically including joint pain,stiffness,and swelling,initially affecting the interphalangeal joints before progressively involving larger joints and the spine.
基金
supported by the Beijing Natural Science Foundation(China)(No.7244286)
the Beijing Municipal Health Commission(China)(No.BJRITO-RDP-2025)
the Beijing Natural Science Foundation-Haidian Original Innovation Joint Fund(China)(No.L222089).
