Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa

Arch Dermatol. 2002 Feb;138(2):269-71. doi: 10.1001/archderm.138.2.269.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Amino Acid Substitution*
  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / complications
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Female
  • Glycine / genetics*
  • Humans
  • Male
  • Mutation*
  • Nails, Malformed / complications
  • Nails, Malformed / genetics*
  • Nails, Malformed / pathology
  • Pedigree

Substances

  • Collagen Type VII
  • Glycine