A novel stop mutation in the vascular endothelial growth factor-C gene (<i>VEGFC</i>) results in Milroy-like disease

Abstract

The clinical presentation, similar to Milroy disease, indicates an overlapping of the external phenotype of both diseases, suggesting that genetic analysis of VEGFC would be useful in diagnosing patients that present with Milroy features but have no mutation in VEGFR-3. Establishing a well-defined genetic pattern would help with differential diagnosis.