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Article

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.

Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2014

Gago-Díaz Marina, Blanco-Verea Alejandro, Teixidó-Turà Gisela, Valenzuela Irene, Del Campo Miguel, Borregan Mar, Sobrino Beatriz, Amigo Jorge, García-Dorado David, Evangelista Artur, Carracedo Angel, Brion María

Abstract excerpt

BACKGROUND: Non-syndromic aortic disease (NSAD) is a frequently asymptomatic but potentially lethal disease characterised by familial cases of thoracic aortic aneurysms and dissections. This monogenic but genetically heterogeneous condition is primarily inherited as an autosomal dominant disorder with low penetrance and variable expression. Mutations in ACTA2, TGFBR1, TGFBR2, MYH11, SMAD3, MYLK, and FBN1 genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25046559
DOI: 10.1016/j.cca.2014.07.016

Genes

TGFB2
ACTA2
FBN1
MYH11
MYLK
SMAD3
TGFBR1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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