Condition: Spondyloepimetaphyseal Dysplasia, Missouri Type


rs121909497 in MMP13 gene and Spondyloepimetaphyseal Dysplasia, Missouri Type PMID 16167086 2005 MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

PMID 19615667 2009 Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.