A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma

J Dermatol Sci. 2020 Nov;100(2):148-151. doi: 10.1016/j.jdermsci.2020.05.001. Epub 2020 May 17.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Humans
  • Keratin-9 / genetics
  • Keratoderma, Palmoplantar, Epidermolytic / genetics*
  • Keratoderma, Palmoplantar, Epidermolytic / pathology
  • Male
  • Mutation
  • Pedigree
  • Serpins / genetics*
  • Skin / pathology
  • Young Adult

Substances

  • KRT9 protein, human
  • Keratin-9
  • SERPINB7 protein, human
  • Serpins