Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema

Clin Genet. 2018 Jul;94(1):179-181. doi: 10.1111/cge.13204. Epub 2018 Mar 15.
No abstract available

Keywords: VEGFR3; lymphatic; mutation; primary lymphedema.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Genetic Association Studies* / methods
  • Genetic Loci
  • Humans
  • Loss of Function Mutation*
  • Lymphedema / diagnosis*
  • Lymphedema / genetics*
  • Pedigree
  • Phenotype
  • RNA Splice Sites*
  • Vascular Endothelial Growth Factor C / genetics*

Substances

  • RNA Splice Sites
  • VEGFC protein, human
  • Vascular Endothelial Growth Factor C