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Article

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

International journal of molecular sciences - 13 Jun 2023

Abdalla Noura, Tobías-Baraja Ester, Gonzalez Alejandro, Garrabou Gloria, Egea Gustavo, Campuzano Victoria

Abstract excerpt

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 important modulators of the...

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Identifiers

PMID: 37373217
DOI: 10.3390/ijms241210071
PMCID: PMC10298715

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