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Article

Lymphatic dysfunction, not aplasia, underlies Milroy disease.

Microcirculation (New York, N.Y. : 1994) - 1 May 2010

Mellor Russell H, Hubert Charlotte E, Stanton Anthony W B, Tate Naomi, Akhras Victoria, Smith Alberto, Burnand Kevin G, Jeffery Steve, Mäkinen Taija, Levick J Rodney, Mortimer Peter S

Abstract excerpt

OBJECTIVE: Milroy disease is an inherited autosomal dominant lymphoedema caused by mutations in the gene for vascular endothelial growth factor receptor-3 (VEGFR-3, also known as FLT4). The phenotype has to date been ascribed to lymphatic aplasia. We further investigated the structural and functi...

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Source

Identifiers

PMID: 20536741
DOI: 10.1111/j.1549-8719.2010.00030.x

Genes

FLT4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20536741-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Lymphatic dysfunction, not aplasia, underlies Milroy disease.PMID 20536741Read ↗

FLT4 Mutations Are Associated with Segmental Lymphatic Dysfunction and Initial Lymphatic Aplasia in Patients with Milroy Disease.Semantic proximity Read ↗

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

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

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

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

Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.Semantic proximity Read ↗

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

The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases.Semantic proximity Read ↗

Immunohistochemical Evaluation of Histological Change in a Chinese Milroy Disease Family With Venous and Skin AbnormitiesSemantic proximity Read ↗

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

Prenatal diagnosis of Milroy's primary congenital lymphedemaSemantic proximity Read ↗

Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome.Semantic proximity Read ↗

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