Article
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Human mutation - 1 Jan 2013
Gordon Kristiana, Spiden Sarah L, Connell Fiona C, Brice Glen, Cottrell Sally, Short John, Taylor Rohan, Jeffery Steve, Mortimer Peter S, Mansour Sahar, Ostergaard Pia
Abstract excerpt
Milroy disease (MD) is an autosomal dominantly inherited primary lymphedema. In 1998, the gene locus for MD was mapped to 5q35.3 and variants in the VEGFR3 (FLT4) gene, encoding vascular endothelial growth factor receptor 3 (VEGFR3), were identified as being responsible for the majority of MD cases. Several reports have since been published detailing pathogenic FLT4 mutations. To date, a total of 58 different...
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