Article

Dysfunctional Mitochondria in Cardiac Fibers of a Williams-Beuren Syndrome Mouse Model

2023-05-15

Abstract excerpt

<h4>Summary</h4> Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder that, together with a rather characteristic neurocognitive profile, presents a strong cardiovascular phenotype. The cardiovascular features of WBS are mainly related to a gene dosage effect due to hemizygosity of the elastin ( ELN ) gene; however, the phenotypic variability between WBS patients indicates the presence of importa...

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Literature Corpus work: 0ce11dc3-295e-502e-ad98-dbc72a4968a4
DOI: 10.1101/2023.05.15.540778

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