Condition: Spondyloepimetaphyseal Dysplasia, Aggrecan Type


rs121913568 in ACAN gene and Spondyloepimetaphyseal Dysplasia, Aggrecan Type PMID 19110214 2009 A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.