Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases

Acta Derm Venereol. 2019 Feb 1;99(2):238-239. doi: 10.2340/00015555-3046.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Simplex / genetics*
  • Epidermolysis Bullosa Simplex / pathology*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Infant, Newborn
  • Italy
  • Male
  • Mutation*
  • Phenotype
  • Prognosis
  • Repressor Proteins / genetics*
  • Skin / pathology*
  • Wound Healing

Substances

  • KLHL24 protein, human
  • Repressor Proteins