Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

  title={Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome},
  author={Peter H Byers and Karen A. Holbrook and Barbara McGillivray and Patrick M. Macleod and R. Brian Lowry},
  journal={Human Genetics},
Ehlers-Danlos syndrome (EDS) type IV is a clinically and genetically heterogeneous disorder characterized by thin skin, prominent venous vascular markings, markedly increased bruising, and an increased likelihood of large bowel and large artery rupture. We studied two type IV EDS patients. Both have decreased amounts of type III collagen in skin, but ultrastructural examination of dermis showed massive dilation of rough endoplasmic reticulum in dermal fibroblasts in one, but not the other. Both… CONTINUE READING

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