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Article

Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema.

Molecular genetics & genomic medicine - 1 Sept 2020

Mukenge Sylvain, Jha Sawan K, Catena Marco, Manara Elena, Leppänen Veli-Matti, Lenti Elisa, Negrini Daniela, Bertelli Matteo, Brendolan Andrea, Jeltsch Michael, Aldrighetti Luca

Abstract excerpt

BACKGROUND: Milroy-like disease is the diagnostic definition used for patients with phenotypes that resemble classic Milroy disease (MD) but are negative to genetic testing for FLT4. In this study, we aimed at performing a genetic characterization and biochemical analysis of VEGF-C variations found in a female proband born with congenital edema consistent with Milroy-like disease. METHODS: The proband underwent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32592340
DOI: 10.1002/mgg3.1389
PMCID: PMC7507552

Genes

FLT4

Provenance

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Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema.PMID 32592340Read ↗

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