Condition: Fibular hypoplasia and complex brachydactyly


rs121909350 in GDF5;GDF5-AS1 gene and Fibular hypoplasia and complex brachydactyly PMID 16222676 2005 Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.

PMID 18629880 2008 Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

PMID 12121354 2002 Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).