KLICK syndrome: recognizable phenotype and hot-spot POMP mutation

J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e154-e156. doi: 10.1111/jdv.13898. Epub 2016 Aug 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Humans
  • Male
  • Molecular Chaperones / genetics*
  • Molecular Chaperones / metabolism
  • Mutation*
  • Phenotype
  • Skin / pathology*
  • Skin Abnormalities / diagnosis
  • Skin Abnormalities / genetics*
  • Skin Abnormalities / metabolism
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Genetic / metabolism

Substances

  • Molecular Chaperones
  • proteasome maturation protein
  • DNA

Supplementary concepts

  • Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma