Grigelioniene et al. identified a neomorphic seed region mutation in the chondrocyte-specific SE-associated miR-140 gene (chr16:g.69967007A>G (hg19), MIR140:NR_029681.1:n.24A>G) in a novel skeletal dysplasia (spondyloepiphyseal dysplasia (SED) MIR140 type Nishimura) [178]. Here, MIR140 is linked to spondyloepiphyseal dysplasia.