Novel de novo heterozygous frameshift mutation of the ADAR1 gene in heavy dyschromatosis symmetrica hereditaria

Cutis. 2016 Sep;98(3):E16-E18.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Deaminase / genetics*
  • Child
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Humans
  • Pigmentation Disorders / congenital*
  • Pigmentation Disorders / diagnosis
  • Pigmentation Disorders / genetics
  • RNA-Binding Proteins / genetics*
  • Skin / pathology

Substances

  • RNA-Binding Proteins
  • ADAR protein, human
  • Adenosine Deaminase

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1