A Mutation in VEGFC, a Ligand for VEGFR3, is Associated with Autosomal Dominant Milroy-like Primary Lymphedema

• Published in: Circulation research Vol. 112; no. 6
• Main Authors: Gordon, K, Schulte, D, Brice, G, Simpson, M.A, Roukens, M.G, Impel, A., Van, Connell, F, Kalidas, K, Jeffery, S, Mortimer, P.S, Mansour, S, Schulte-Merker, S, Ostergaard, P
• Format: Journal Article
• Published: 2013
• Subjects: disease; phenotype; system; variants; vegfc

Rationale: Mutations in vascular endothelial growth factor (VEGF) receptor-3 (VEGFR3 or FLT4) cause Milroy disease, an autosomal dominant condition that presents with congenital lymphedema. Mutations in VEGFR3 are identified in only 70% of patients with classic Milroy disease, suggesting genetic het...