Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1)

Clin Exp Dermatol. 2022 Feb;47(2):497-502. doi: 10.1111/ced.14917. Epub 2021 Nov 21.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Epidermolysis Bullosa Simplex / genetics*
  • Epidermolysis Bullosa Simplex / pathology
  • Female
  • Frameshift Mutation*
  • Homozygote
  • Humans

Supplementary concepts

  • Epidermolysis Bullosa Simplex, Autosomal Recessive

Associated data

  • RefSeq/NM_001723
  • RefSeq/NM_001723.7
  • RefSeq/NM_001723.4
  • RefSeq/NM_001723.5
  • RefSeq/NM_001144769