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Spondyloepiphyseal "dysplasia," Kimberley type
Did you mean Spondyloepiphyseal "dysplasia," kimberly type?
- ... short stature, called spondyloepimetaphyseal dysplasia, aggrecan type and spondyloepiphyseal dysplasia, Kimberley type, are caused by variants in the ACAN gene. ...