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.