Condition: Chondrodysplasia Punctata, Rhizomelic
rs796051881
in
PEX5
gene and
Chondrodysplasia Punctata, Rhizomelic
PMID 26220973
2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.