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Article

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Clinical genetics - 1 Jun 2016

Regalado E S, Guo D C, Santos-Cortez R L P, Hostetler E, Bensend T A, Pannu H, Estrera A, Safi H, Mitchell A L, Evans J P, Leal S M, Bamshad M, Shendure J, Nickerson D A, Milewicz D M

Abstract excerpt

Marfan syndrome (MFS) due to mutations in FBN1 is a known cause of thoracic aortic aneurysms and acute aortic dissections (TAAD) associated with pleiotropic manifestations. Genetic predisposition to TAAD can also be inherited in families in the absence of syndromic features, termed familial TAAD (FTAAD), and several causative genes have been identified to date. FBN1 mutations can also be identified in FTAAD...

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Source

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Identifiers

PMID: 26621581
DOI: 10.1111/cge.12702
PMCID: PMC4873375

Genes

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.

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