Condition: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
rs1554022725
in
UFSP2;C4orf47
gene and
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
PMID 28892125
2018 Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
PMID 21228277
2011 Structure of ubiquitin-fold modifier 1-specific protease UfSP2.