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Article

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.

Journal of medical genetics - 1 Jul 2014

Balboa-Beltran Emilia, Fernández-Seara María J, Pérez-Muñuzuri Alejandro, Lago Ramón, García-Magán Carlos, Couce María L, Sobrino Beatriz, Amigo Jorge, Carracedo Angel, Barros Francisco

Abstract excerpt

BACKGROUND: Milroy and Milroy-like disease are rare disorders characterised by congenital lymphoedema caused by dysfunctional lymphatic vessel formation. Loss of extracellular response mediated by vascular endothelial growth factor receptor 3 (VEGFR-3) is associated with Milroy disease, and VEGFR-3 gene is mutated in around 70% of the cases diagnosed. The only genetic alteration known to be associated with...

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Identifiers

PMID: 24744435
DOI: 10.1136/jmedgenet-2013-102020

Genes

VEGFC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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