Lymphatic dysfunction, not aplasia, underlies Milroy disease.

  title={Lymphatic dysfunction, not aplasia, underlies Milroy disease.},
  author={Russell H Mellor and Charlotte E Hubert and Anthony W. B. Stanton and Naomi Tate and Victoria Akhras and Alberto Smith and Kevin Guiver Burnand and Steve Jeffery and Taija M{\"a}kinen and J. Rodney Levick and Peter Mortimer},
  volume={17 4},
OBJECTIVE Milroy disease is an inherited autosomal dominant lymphoedema caused by mutations in the gene for vascular endothelial growth factor receptor-3 (VEGFR-3, also known as FLT4). The phenotype has to date been ascribed to lymphatic aplasia. We further investigated the structural and functional defects underlying the phenotype in humans. METHODS The… CONTINUE READING