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The Ehlers-Danlos syndromes.

Publication ,  Journal Article
Yeowell, HN; Pinnell, SR
Published in: Semin Dermatol
September 1993

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.

Duke Scholars

Published In

Semin Dermatol

ISSN

0278-145X

Publication Date

September 1993

Volume

12

Issue

3

Start / End Page

229 / 240

Location

United States

Related Subject Headings

  • Mutation
  • Molecular Sequence Data
  • Humans
  • Ehlers-Danlos Syndrome
  • Collagen
  • Base Sequence
  • Amino Acid Sequence
 

Citation

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MLA
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Yeowell, H. N., & Pinnell, S. R. (1993). The Ehlers-Danlos syndromes. Semin Dermatol, 12(3), 229–240.
Yeowell, H. N., and S. R. Pinnell. “The Ehlers-Danlos syndromes.Semin Dermatol 12, no. 3 (September 1993): 229–40.
Yeowell HN, Pinnell SR. The Ehlers-Danlos syndromes. Semin Dermatol. 1993 Sep;12(3):229–40.
Yeowell, H. N., and S. R. Pinnell. “The Ehlers-Danlos syndromes.Semin Dermatol, vol. 12, no. 3, Sept. 1993, pp. 229–40.
Yeowell HN, Pinnell SR. The Ehlers-Danlos syndromes. Semin Dermatol. 1993 Sep;12(3):229–240.

Published In

Semin Dermatol

ISSN

0278-145X

Publication Date

September 1993

Volume

12

Issue

3

Start / End Page

229 / 240

Location

United States

Related Subject Headings

  • Mutation
  • Molecular Sequence Data
  • Humans
  • Ehlers-Danlos Syndrome
  • Collagen
  • Base Sequence
  • Amino Acid Sequence