The Ehlers-Danlos syndromes.

Published

Journal Article (Review)

The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited connective tissue disorders characterized clinically by skin fragility, skin hyperextensibility, joint hypermobility, and excessive bruising. At least 10 different subtypes of EDS have been classified based on genetic, biochemical, and clinical characteristics. Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). Very little is known about the genetic or biochemical defects responsible for the other EDS subtypes, but with the application of the tools of molecular biology, analysis of these defects is now within reach.

Full Text

Duke Authors

Cited Authors

  • Yeowell, HN; Pinnell, SR

Published Date

  • September 1, 1993

Published In

Volume / Issue

  • 12 / 3

Start / End Page

  • 229 - 240

PubMed ID

  • 8217561

Pubmed Central ID

  • 8217561

International Standard Serial Number (ISSN)

  • 0278-145X

Language

  • eng

Conference Location

  • United States