Ellis-van Creveld (EvC) syndrome is an autosomal recessive skeletal dysplasia characterised by shortening of long bones and polydactyly. Professor Goodship's research group had previously identified the cause of EvC as mutations in two novel genes called EVC and EVCI. They developed an Evc knockout mouse which exhibits an EvC-like phenotype. Evc localizes at the base of fibroblast primary cilia which are essential for hedgehog signalling. Hedgehog pathway defects can cause similar abnormalities to those seen in EvC.
| Identifer | oai:union.ndltd.org:bl.uk/oai:ethos.bl.uk:492120 |
| Date | January 2008 |
| Creators | Wilson, Amy Jane |
| Publisher | University of Newcastle Upon Tyne |
| Source Sets | Ethos UK |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
Page generated in 0.0021 seconds