not only affects the axial and peripheral skeleton, but also has other systemic extra-musculoskeletal manifestations in various other organs such as the eyes, gut, and skin," said Atul Deodhar ...

Ankylosing Spondylitis (AS) is a chronic inflammatory arthritis that predominantly affects the axial skeleton in adolescent patients causing spinal pain and stiffness. There is a marked delay ...

该研究在先天性脊柱畸形队列中报道了SOX9致病性突变，并研究了SOX9的TAM突变导致轻度中轴骨发育不良的机制，为脊柱畸形的早期诊断及遗传咨询提供了理论依据。