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Article

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

Clinical genetics - 1 Oct 2006

Ghalamkarpour A, Morlot S, Raas-Rothschild A, Utkus A, Mulliken J B, Boon L M, Vikkula M

Abstract excerpt

Mutations in the vascular endothelial growth factor receptor 3 gene, VEGFR3/FLT4, have been identified in a subset of families with hereditary lymphedema type I or Milroy disease (MIM 153100). Individuals carrying a VEGFR3 mutation exhibit congenital edema of the lower limbs, usually bilaterally and below the knees, sometimes associated with cellulitis, prominent veins, papillomatosis, upturned toenails, and...

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Source

Identifiers

PMID: 16965327
DOI: 10.1111/j.1399-0004.2006.00687.x

Genes

FLT4

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.PMID 16965327Read ↗

A novel VEGFR3 mutation causes Milroy disease.Semantic proximity Read ↗

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.Semantic proximity Read ↗

Milroy disease and the VEGFR-3 mutation phenotype.Semantic proximity Read ↗

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedemaSemantic proximity Read ↗

A novel mutation in the conserved sequence of vascular endothelial growth factor receptor 3 leads to primary lymphoedema.Semantic proximity Read ↗

Recessive primary congenital lymphoedema caused by a <i>VEGFR3</i> mutationSemantic proximity Read ↗

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial LymphedemaSemantic proximity Read ↗

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.Semantic proximity Read ↗

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.Semantic proximity Read ↗

Compound heterozygosity for a variably penetrant variant and a variant of unknown significance in FLT4 causes fully penetrant Milroy's lymphedema.Semantic proximity Read ↗

Milroy's primary congenital lymphedema in a male infant and review of the literature.Semantic proximity Read ↗

Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.Semantic proximity Read ↗

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