Article

Loss of ERG function causes lymphatic vessel malformations and primary lymphoedema

2025-03-14

Abstract excerpt

Transcription factor networks are crucial for the regulation of endothelial cell gene expression during vascular development and homeostasis. A recent analysis of 269 rare diseases in 77,539 individuals revealed an association between loss-of-function variants in ERG, encoding an ETS transcription factor, with primary lymphoedema. However, the pathogenicity of such variants and possible mechanisms of ERG-associate...

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Literature Corpus work: a175d590-871a-50df-925b-fda281f5e8e5
DOI: 10.1101/2025.03.10.25323421

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