A novel splice site mutation in the ADAR gene leading to exon skipping and dyschromatosis symmetrica hereditaria in a Japanese patient

Clin Exp Dermatol. 2016 Dec;41(8):933-934. doi: 10.1111/ced.12981. Epub 2016 Oct 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Deaminase / genetics*
  • Adolescent
  • Foot Dermatoses / genetics*
  • Genetic Predisposition to Disease
  • Hand Dermatoses / genetics*
  • Humans
  • Male
  • Mutation*
  • Pigmentation Disorders / congenital*
  • Pigmentation Disorders / genetics
  • RNA Splice Sites / genetics*

Substances

  • RNA Splice Sites
  • Adenosine Deaminase

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1