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.