Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

J Invest Dermatol. 2017 Jun;137(6):1378-1380. doi: 10.1016/j.jid.2017.01.004. Epub 2017 Jan 19.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Biopsy, Needle
  • Child
  • Child, Preschool
  • Cohort Studies
  • Epidermolysis Bullosa Simplex / genetics*
  • Epidermolysis Bullosa Simplex / pathology*
  • Female
  • Genetic Predisposition to Disease / epidemiology*
  • Humans
  • Immunohistochemistry
  • Male
  • Mutation*
  • Pedigree
  • Prognosis
  • Repressor Proteins / genetics*

Substances

  • KLHL24 protein, human
  • Repressor Proteins