Gene diagnosis and prenatal genetic diagnosis of a case of dystrophic epidermolysis bullosa family caused by gonadosomatic mosaicism for the COL7A1 mutation p.Gly2043Arg in the pregnant mother

J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1627-9. doi: 10.1111/jdv.13229. Epub 2015 Aug 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Child
  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / diagnosis*
  • Epidermolysis Bullosa Dystrophica / genetics
  • Female
  • Humans
  • Male
  • Molecular Diagnostic Techniques*
  • Mosaicism*
  • Mutation*
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Collagen Type VII