Condition: Metaphyseal chondrodysplasia Spahr type


rs140059558 in MMP13 gene and Metaphyseal chondrodysplasia Spahr type PMID 24781753 2015 Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

PMID 24648384 2014 MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.