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Article

Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome.

Journal of vascular surgery - 1 Jul 2018

De Cario Rosina, Sticchi Elena, Lucarini Laura, Attanasio Monica, Nistri Stefano, Marcucci Rossella, Pepe Guglielmina, Giusti Betti

Abstract excerpt

OBJECTIVE: Genetic variants in transforming growth factor beta (TGF-β) receptors type 1 (TGFBR1) and type 2 (TGFBR2) genes have been associated with different hereditary connective tissue disorders sharing thoracic aortic aneurysm and dissection (TAA/D). Mutations in both TGFBR1/2 genes have been described in patients with TAA/D and Marfan syndrome (MFS), and they are associated consistently with Loeys-Dietz...

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Source

Identifiers

PMID: 28847661
DOI: 10.1016/j.jvs.2017.04.071

Genes

TGFBR1
TGFBR2
FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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