Phenotypic overlap between familial aneurysms and Ehlers-Danlos syndrome type IV resulting from a type III procollagen gene mutation

Ann N Y Acad Sci. 1996 Nov 18:800:294-8. doi: 10.1111/j.1749-6632.1996.tb33336.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Ehlers-Danlos Syndrome / classification
  • Ehlers-Danlos Syndrome / genetics*
  • Exons / genetics
  • Extracellular Matrix / metabolism
  • Fibroblasts / metabolism
  • Humans
  • Male
  • Phenotype
  • Point Mutation
  • Polymerase Chain Reaction
  • Procollagen / deficiency
  • Procollagen / genetics*
  • RNA Splicing
  • RNA, Messenger / genetics
  • Skin / metabolism
  • Skin / pathology

Substances

  • Procollagen
  • RNA, Messenger