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

Sylvain MukengeSawan K JhaMarco CatenaElena ManaraVeli-Matti LeppänenElisa LentiDaniela NegriniMatteo BertelliAndrea BrendolanMichael JeltschLuca Aldrighetti

Published in: Molecular genetics & genomic medicine (2020)

Our findings reveal an interesting case in which biallelic variants in VEGF-C are found in a patient with Milroy-like lymphedema. These data expand our understanding of the etiology of congenital Milroy-like lymphedema.

Keyphrases

case report
vascular endothelial growth factor
copy number
intellectual disability
endothelial cells
genome wide
big data
gene expression
machine learning
dna methylation
deep learning
artificial intelligence