Hereditary lymphedema type 1a is an autosomal dominant disorder caused by mutations of the FLT4 gene.
| 1. |
Karkkainen MJ et al. (2000) Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
|
| 2. |
Balboa-Beltran E et al. (2014) A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.
|
| 3. |
Brice G et al. (2005) Milroy disease and the VEGFR-3 mutation phenotype.
|
| 4. |
None (1965) CONGENITAL HEREDITARY LYMPHOEDEMA.
|
| 5. |
HURWITZ PA et al. (1964) PLEURAL EFFUSION IN CHRONIC HEREDITARY LYMPHEDEMA (NONNE, MILROY, MEIGE'S DISEASE). REPORT OF TWO CASES.
|
| 7. |
Evans AL et al. (1999) Mapping of primary congenital lymphedema to the 5q35.3 region.
|
| 8. |
None (1978) The pathogenesis of congenital hereditary lymphedema in the pig.
|
| 9. |
None (1978) Congenital hereditary lymphedema in the pig.
|
| 11. |
Ghalamkarpour A et al. (2009) Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.
|
| 12. |
Connell FC et al. (2009) Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.
|
| 13. |
Ghalamkarpour A et al. (2006) Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
|
| 14. |
Spiegel R et al. (2006) Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.
|
| 15. |
Evans AL et al. (2003) Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.
|
| 16. |
Ferrell RE et al. (1998) Hereditary lymphedema: evidence for linkage and genetic heterogeneity.
|
| 17. |
OMIM.ORG article Omim 153100
|