The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure

Am J Med Genet A. 2008 May 15;146A(10):1341-6. doi: 10.1002/ajmg.a.32213.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Cells, Cultured
  • Collagen / chemistry
  • Collagen / ultrastructure*
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / pathology
  • Ehlers-Danlos Syndrome / physiopathology
  • Female
  • Fibroblasts / ultrastructure*
  • Humans
  • Infant
  • Microscopy, Electron, Transmission
  • Severity of Illness Index
  • Skin / cytology*

Substances

  • Collagen