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Results 1 - 2 of 2 for Spondyloepimetaphyseal "dysplasia," Krakow type
  1. COL2A1 gene 
    ... the COL2A1 gene have been found to cause spondyloepimetaphyseal dysplasia, Strudwick type. This disorder of bone growth is characterized by ... with vision. The COL2A1 gene variants that cause spondyloepimetaphyseal dysplasia, Strudwick type all change single amino acids in the pro- ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  2. ACAN gene 
    ... Two other conditions associated with short stature, called spondyloepimetaphyseal dysplasia, aggrecan type and spondyloepiphyseal dysplasia, Kimberley type, are caused by ...
    https://medlineplus.gov/genetics/gene/acan - Genetics