Condition: Milroy Disease
rs121909650 in
FLT4 gene and
Milroy Disease
PMID 10856194 2000 Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
PMID 9817924 1998 Hereditary lymphedema: evidence for linkage and genetic heterogeneity.
PMID 15102829 2004 Activation of vascular endothelial growth factor receptor-3 and its downstream signaling promote cell survival under oxidative stress.
PMID 16924388 2006 Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.
PMID 12881528 2003 Ligand-induced vascular endothelial growth factor receptor-3 (VEGFR-3) heterodimerization with VEGFR-2 in primary lymphatic endothelial cells regulates tyrosine phosphorylation sites.
PMID 26091405 2015 A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.
PMID 17458866 2007 A novel VEGFR3 mutation causes Milroy disease.
PMID 19289394 2009 Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.
PMID 16965327 2006 Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
PMID 10835628 2000 Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.