Presymptomatic genetic diagnosis of two siblings with hereditary angioedema, presenting with unusual normal levels of serum C4

J Dermatol. 2018 Feb;45(2):e31-32. doi: 10.1111/1346-8138.14103. Epub 2017 Oct 23.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Angioedemas, Hereditary / blood
  • Angioedemas, Hereditary / diagnosis*
  • Angioedemas, Hereditary / genetics
  • Asymptomatic Diseases
  • Child
  • Child, Preschool
  • Complement C1 Inhibitor Protein / genetics*
  • Complement C4 / analysis*
  • Female
  • Genetic Testing
  • Humans
  • Infant
  • Mutation
  • RNA Splice Sites / genetics
  • Siblings

Substances

  • Complement C1 Inhibitor Protein
  • Complement C4
  • RNA Splice Sites
  • SERPING1 protein, human