The molecular genetics of the Ehlers-Danlos syndrome.
The identification and investigation of many inherited disorders has an importance out of proportion to their frequency because of the insights they provide into physiological, pathological and molecular mechanisms. This is true of the heritable disorders of connective tissue which are a diverse group of conditions involving cutaneous, musculoskeletal, cardiovascular, ocular, gastrointestinal and pulmonary systems. The Ehlers-Danlos syndrome (EDS), which shows great clinical variability and genetic heterogeneity, is one example which has particular relevance to the dermatologist and is the focus of this review.
Burrows
N P
NP
Department of Dermatology, Addenbrooke's NHS Trust, Cambridge, UK. nburrows@hgmp.mrc.ac.uk
D003094:Collagen / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007592:Joint Diseases / Q000503:physiopathology; D007596:Joints / Q000503:physiopathology
D003094:Collagen