A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex

Clin Exp Dermatol. 2023 Mar 22;48(4):431-433. doi: 10.1093/ced/llac129.
No abstract available

MeSH terms

  • Epidermolysis Bullosa Simplex* / genetics
  • Humans
  • Keratin-14 / genetics
  • Loss of Function Mutation
  • Mutation
  • Pedigree

Substances

  • KRT14 protein, human
  • Keratin-14

Supplementary concepts

  • Epidermolysis Bullosa Simplex, Autosomal Recessive

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