Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum

Acta Derm Venereol. 2013 Nov;93(6):739-40. doi: 10.2340/00015555-1570.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Biopsy
  • Brazil
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Male
  • Middle Aged
  • Multidrug Resistance-Associated Proteins / genetics*
  • Mutation*
  • Pedigree
  • Phenotype
  • Pseudoxanthoma Elasticum / diagnosis
  • Pseudoxanthoma Elasticum / ethnology
  • Pseudoxanthoma Elasticum / genetics*
  • Risk Factors
  • Skin / pathology

Substances

  • ABCC6 protein, human
  • Multidrug Resistance-Associated Proteins