Genetic basis of Ehlers-Danlos syndrome

Ibkhatra, Islam Salem (2018-05-05)

In this report, we will discuss the genetic and biochemical data, the current Villefranche classification subdivides EDS into six major subtypes, , which are caused by mutations in genes encoding fibrillar collagens or enzymes involved in collagen biosynthesis. Mutations in type V and type III collagen cause classic and vascular EDS, respectively, whereas mutations affecting the processing of type I collagen lead to the kyphoscoliotic, arthrochalasic and dermatosparactic EDS types


Attribution 3.0 United States
Except where otherwise noted, this item's license is described as Attribution 3.0 United States