Two patients with Hailey-Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations

J Dermatol. 2024 Jun;51(6):e185-e187. doi: 10.1111/1346-8138.17081. Epub 2023 Dec 19.
No abstract available

Publication types

  • Letter
  • Case Reports

MeSH terms

  • Adult
  • Calcium-Transporting ATPases* / genetics
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pemphigus, Benign Familial* / diagnosis
  • Pemphigus, Benign Familial* / genetics
  • Pemphigus, Benign Familial* / pathology

Substances

  • ATP2C1 protein, human
  • Calcium-Transporting ATPases

Associated data

  • RefSeq/NM_001378687.1