A Postzygotic ATP2A2 Novel Mutation Identified by Next-generation Sequencing in Mosaic Darier Disease

Acta Derm Venereol. 2019 Jan 1;99(1):115-116. doi: 10.2340/00015555-3018.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • DNA Mutational Analysis / methods*
  • Darier Disease / genetics*
  • Darier Disease / pathology
  • Female
  • Genetic Predisposition to Disease
  • Heterozygote
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Middle Aged
  • Mosaicism*
  • Mutation*
  • Phenotype
  • Predictive Value of Tests
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics*
  • Skin / pathology*

Substances

  • Sarcoplasmic Reticulum Calcium-Transporting ATPases
  • ATP2A2 protein, human

Supplementary concepts

  • Darier Disease, Segmental