Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

@article{Byers1979ClinicalAU,
  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},
  year={1979},
  volume={47},
  pages={141-150}
}
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

From This Paper

Figures, tables, and topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 26 extracted citations

Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians • 2009

References

Publications referenced by this paper.
Showing 1-10 of 27 references

and a hypothesis to explain the basic defect

P. Beighton
Br. Med. J. 1967II, • 1970
View 5 Excerpts
Highly Influenced

Simultaneous synthesis of type I

G. R. Martin, P. K. Mftller, R. Timpl, K. Kfihn
dermis. J. Biol • 1978

Alpha~-antitrypsin in the livers of patients

J. Lieberman, C. Mittman, H. W. Gordon
in conditioning bundles organization. Connect. Tissue Res • 1977

Similar Papers

Loading similar papers…