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.