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Article

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

Circulation - 26 Jul 2005

Pannu Hariyadarshi, Fadulu Van Tran, Chang Jessica, Lafont Andrea, Hasham Sumera N, Sparks Elizabeth, Giampietro Philip F, Zaleski Christina, Estrera Anthony L, Safi Hazim J, Shete Sanjay, Willing Marcia C, Raman C S, Milewicz Dianna M

Abstract excerpt

BACKGROUND: A genetic predisposition for progressive enlargement of thoracic aortic aneurysms leading to type A dissection (TAAD) is inherited in an autosomal-dominant manner in up to 19% of patients, and a number of chromosomal loci have been identified for the condition. Having mapped a TAAD locus to 3p24-25, we sequenced the gene for transforming growth factor-beta receptor type II (TGFBR2) to determine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Share to Protein Serine-Threonine Kinases

Share to Receptor, Transforming Growth Factor-beta Type II

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Source

Identifiers

PMID: 16027248
DOI: 10.1161/CIRCULATIONAHA.105.537340

Genes

TGFBR2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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