Article
Mapping morphological malformation to genetic dysfunction in blood vessel organoids with 22q11.2 Deletion Syndrome
2021-11-19
Abstract excerpt
DiGeorge Syndrome, or 22q11.2 deletion syndrome (22q11.2 DS), is a genetic disorder caused by microdeletions in chromosome 22, impairing the function of endothelial cells (EC) and/or mural cells and leading to deficits in blood vessel development such as abnormal aortic arch morphology, tortuous retinal vessels, and tetralogy of Fallot. The mechanism by which dysfunctional endothelial cells and pericytes contribut...
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Identifiers and source
- Literature Corpus work
- c4e8e361-ccd5-5145-86fa-c0b8befeeae4
- DOI
- 10.1101/2021.11.17.468969
