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Article

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.

European journal of human genetics : EJHG - 1 Mar 2010

Micale Lucia, Turturo Maria Giuseppina, Fusco Carmela, Augello Bartolomeo, Jurado Luis A Pérez, Izzi Claudia, Digilio Maria Cristina, Milani Donatella, Lapi Elisabetta, Zelante Leopoldo, Merla Giuseppe

Abstract excerpt

Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta, which can occur sporadically as an autosomal dominant condition or as one component of the Williams-Beuren syndrome, a complex developmental genomic disorder associated with cardiovascular, neurobehavioral, cra...

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Identifiers

PMID: 19844261
DOI: 10.1038/ejhg.2009.181
PMCID: PMC2987220

Genes

ELN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19844261-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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