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Results 1 - 3 of 3 for Spondyloepimetaphyseal "dysplasia," Krakow type
  1. COL2A1 gene 
    ... in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, ... V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  2. Spondyloepiphyseal dysplasia with marked metaphyseal changes 
    ... COL2A1-related Genetic Testing Registry: Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia congenita, Strudwick type National Organization for Rare Disorders ( ...
    https://medlineplus.gov/...dysplasia-with-marked-metaphyseal-changes - Genetics
  3. 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