Du Pan syndrome is an autosomal recessive disorder caused by mutations of the GDF5 gene. Its characterised by a rather complex brachydactyly and fibula aplasia.
1. |
Faiyaz-Ul-Haque M et al. (2002) Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). |
2. |
Szczaluba K et al. (2005) Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene. |
3. |
Douzgou S et al. (2008) Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. |
4. |
Ahmad M et al. (1990) Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred. |
5. |
Kohn G et al. (1989) New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence. |
6. |
Orphanet article Orphanet ID 2639 |
7. |
OMIM.ORG article Omim 228900 |