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Results 1 - 1 of 1 for Spondyloepiphyseal "dysplasia," Stanescu type
Did you mean Spondyloepiphyseal "dysplasia," stances type?
  1. COL2A1 gene 
    ... caused by variants in the COL2A1 gene is spondyloepiphyseal dysplasia, Stanescu type (SEDSTN). This condition is characterized by the tightening ... in the knees, hips, and fingers. Individuals with spondyloepiphyseal dysplasia, ... type typically have joint pain and difficulties walking. Additional ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics