Patient with the vascular type of Ehlers-Danlos syndrome, with a novel point-mutation in the COL3A1 gene

J Dermatol. 2013 Mar;40(3):226-8. doi: 10.1111/1346-8138.12057. Epub 2013 Jan 7.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Collagen Type III / genetics*
  • Ehlers-Danlos Syndrome / genetics*
  • Female
  • Humans
  • Point Mutation
  • Vascular Diseases / genetics

Substances

  • COL3A1 protein, human
  • Collagen Type III