| 1 | FLT4, HLMN1, PCLD |
| Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema. | |
| Mendola A, Schlögel MJ, Ghalamkarpour A, Irrthum A, Nguyen HL, Fastré E, Bygum A, van der Vleuten C, Fagerberg C, Baselga E, Quere I, Mulliken JB, Boon LM, Brouillard P, Vikkula M; Lymphedema Research Group. | |
| Mol Syndromol 4(6):257-66. doi: 10.1159/000354097. Epub 2013 Aug 21. 2013 | |
| 2 | FLT4, PCLD |
| Recessive primary congenital lymphoedema caused by a VEGFR3 mutation. | |
| Ghalamkarpour A, Holnthoner W, Saharinen P, Boon LM, Mulliken JB, Alitalo K, Vikkula M. | |
| J Med Genet 46(6):399-404. Epub 2009 Mar 15. 2009 | |
| 3 | PCLD |
| Early onset lymphoedema, recessive form--a new form of genetic lymphoedema syndrome. | |
| Mücke J, Hoepffner W, Scheerschmidt G, Gornig H, Beyreiss K. | |
| Eur J Pediatr 145(3):195-8. 1986 | |