Human genes for spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia, Missouri type [DOID:0080030]
A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
Synonyms: spondyloepimetaphyseal dysplasia, Missouri type, DOID:0080030, Missouri type spondyloepimetaphyseal dysplasia, spondyloepimetaphyseal dysplasia Missouri type, Missouri type spondyloepimetaphyseal dysplasias
Linkouts: OMIM