Ehlers‐Danlos syndrome and type III collagen abnormalities: a variable clinical

  title={Ehlers‐Danlos syndrome and type III collagen abnormalities: a variable clinical},
  author={B. Hamel and G. Pals and C.H.A.M. Engels and E. Akker and G. Boers and P. Dongen and P. Steijlen},
  journal={Clinical Genetics},
  • B. Hamel, G. Pals, +4 authors P. Steijlen
  • Published 1998
  • Medicine
  • Clinical Genetics
  • Ehlers‐Danlos syndrome (EDS) comprises ten types. EDS IV is the most severe type because of its often lethal complications, such as arterial rupture. EDS IV is caused by an abnormality of collagen type III as a result of mutations in the corresponding gene COL3A1. A collagen type III abnormality is also seen in patients with EDS without the classical severe EDS IV phenotype. We report on 11 patients with type III collagen abnormality and normal collagen V in whom clinically EDS II, III, and IV… CONTINUE READING
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