Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations

J Dermatol Sci. 2011 Dec;64(3):237-40. doi: 10.1016/j.jdermsci.2011.09.002. Epub 2011 Sep 24.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Case-Control Studies
  • Cells, Cultured
  • Child
  • Collagen Type III / genetics*
  • Collagen Type III / metabolism
  • DNA Mutational Analysis
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / metabolism
  • Ehlers-Danlos Syndrome / mortality
  • Ehlers-Danlos Syndrome / pathology
  • Female
  • Fibroblasts / metabolism*
  • Fibroblasts / pathology
  • Genetic Predisposition to Disease
  • Humans
  • Italy
  • Male
  • Mutation*
  • Phenotype
  • Prognosis
  • Skin / metabolism*
  • Skin / pathology
  • Young Adult

Substances

  • COL3A1 protein, human
  • Collagen Type III