Ciliary disorder of the skeleton.
Paris, France. In Am J Med Genet C Semin Med Genet, 2012
Mutations have been identified in dynein motor (DYNC2H1), in intraflagellar transport (IFT) complexes (IFT80, IFT122, IFT43, WDR35, WDR19, and TTC21B) as well as in genes responsible for the basal body (NEK1, EVC, and EVC2).
Ellis-van Creveld syndrome.
Paris, France. In Orphanet J Rare Dis, 2006
Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative.