Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations

J Invest Dermatol. 2016 Apr;136(4):875-878. doi: 10.1016/j.jid.2015.12.034. Epub 2016 Jan 21.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase / genetics*
  • Autoimmune Diseases of the Nervous System / genetics*
  • Base Sequence
  • Exons
  • Female
  • Genetic Variation
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Molecular Sequence Data
  • Mutation*
  • Nervous System Malformations / genetics*
  • Pedigree
  • Phenotype
  • Pigmentation Disorders / congenital*
  • Pigmentation Disorders / genetics
  • RNA-Binding Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

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

Supplementary concepts

  • Aicardi-Goutieres syndrome
  • Dyschromatosis symmetrica hereditaria 1