Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity

J Dermatol Sci. 2018 Feb;89(2):201-204. doi: 10.1016/j.jdermsci.2017.11.009. Epub 2017 Nov 22.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Blood Coagulation / genetics*
  • Blood Coagulation Tests
  • Calcinosis / blood
  • Calcinosis / diagnosis
  • Calcinosis / genetics*
  • Calcinosis / pathology
  • Carbon-Carbon Ligases / genetics*
  • Female
  • Humans
  • Middle Aged
  • Mutation, Missense
  • Pseudoxanthoma Elasticum / blood
  • Pseudoxanthoma Elasticum / diagnosis
  • Pseudoxanthoma Elasticum / genetics*
  • Pseudoxanthoma Elasticum / pathology

Substances

  • Carbon-Carbon Ligases
  • glutamyl carboxylase