Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1

J Eur Acad Dermatol Venereol. 2018 Oct;32(10):e394-e396. doi: 10.1111/jdv.15076. Epub 2018 Jun 11.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Deaminase / genetics*
  • Base Sequence*
  • Chilblains / complications
  • Chilblains / genetics*
  • Child
  • Double-Stranded RNA Binding Motif / genetics
  • Female
  • Humans
  • Pedigree
  • Pigmentation Disorders / complications
  • Pigmentation Disorders / congenital*
  • Pigmentation Disorders / genetics
  • Pigmentation Disorders / pathology
  • RNA-Binding Proteins / genetics*
  • Sequence Deletion*

Substances

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

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1