Novel missense mutation c.539A>G; p.Glu180Gly in keratin 1 causing epidermolytic ichthyosis

J Dermatol. 2021 Dec;48(12):e579-e580. doi: 10.1111/1346-8138.16142. Epub 2021 Sep 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Humans
  • Hyperkeratosis, Epidermolytic* / diagnosis
  • Hyperkeratosis, Epidermolytic* / genetics
  • Keratin-1 / genetics*
  • Mutation, Missense
  • Pedigree

Substances

  • Keratin-1