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Spondyloperipheral dysplasia
- Spondyloperipheral dysplasia is a disorder that impairs bone growth. The signs and symptoms of this condition can vary among affected individuals. People with spondyloperipheral dysplasia typically have short stature, with a short torso, ...
- ... the COL2A1 gene have been found to cause spondyloperipheral dysplasia. This disorder of bone growth is characterized by ... skeletal abnormalities. The COL2A1 gene variants that cause spondyloperipheral dysplasia typically affect the C-propeptide domain near the ...
