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Results 1 - 1 of 1 for Spondyloperipheral dysplasia
  1. COL2A1 gene 
    ... the COL2A1 gene have been found to cause spondyloperipheral dysplasia. This disorder of bone growth is characterized by ... skeletal abnormalities. The COL2A1 gene variants associated with spondyloperipheral dysplasia typically occur in the C-propeptide domain. The ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics