Article
Lymphatic dysfunction, not aplasia, underlies Milroy disease.
Microcirculation (New York, N.Y. : 1994) - 1 May 2010
Mellor Russell H, Hubert Charlotte E, Stanton Anthony W B, Tate Naomi, Akhras Victoria, Smith Alberto, Burnand Kevin G, Jeffery Steve, Mäkinen Taija, Levick J Rodney, Mortimer Peter S
Abstract excerpt
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 skin of the swollen foot and the non-swollen forearm was...
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