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Article

Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy.

European journal of medical genetics - 1 Oct 2024

Esmel-Vilomara Roger, Dougherty-De Miguel Lucy, Artigas-Baleri Alícia, Turón-Viñas Eulàlia, Cuscó Ivon, Díaz-Gómez Asunción, Panadés-De Oliveira Luisa, Rocamora Rodrigo, Boronat Susana

Abstract excerpt

Neurodevelopmental disorders have been linked to numerous genes, particularly pathogenic variants in genes encoding postsynaptic scaffolding proteins, like SHANK3. This study aims to provide insights into the cardiovascular profile of patients with pathogenic SHANK3 variants, expanding beyond the well-established associations with neurodevelopmental disorders and epilepsy. We conducted a prospective study...

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PMID: 39094681
DOI: 10.1016/j.ejmg.2024.104965

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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