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A novel TGFβR2 splice variant in patient with aortic aneurysm and family history for aortic dissection: a case report.

Personalized medicine - 1 Jan 2024

Vecoli Cecilia, Foffa Ilenia, Vittorini Simona, Botto Nicoletta, Esposito Augusto, Costa Sabrina, Piagneri Valeria, Festa Pierluigi, Ait-Ali Lamia

Abstract excerpt

We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor site (c.1600-1G>T) of TGFβR2 gene was identified by using a targeted multi-gene panel analysis. Bioinformatics tools predicted that the c.1600-1G>T variant is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Transforming Growth Factor-beta Type II

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PMID: 38634413
DOI: 10.2217/pme-2023-0135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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