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Article

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.

Clinical genetics - 1 Apr 2013

Hilhorst-Hofstee Y, Scholte A J H A, Rijlaarsdam M E B, van Haeringen A, Kroft L J, Reijnierse M, Ruivenkamp C A L, Versteegh M I M, Pals G, Breuning M H

Abstract excerpt

Several genes involved in the familial appearance of thoracic aortic aneurysms and dissections (FTAAD) have been characterized recently, one of which is SMAD3. Mutations of SMAD3 cause a new syndromic form of aortic aneurysms and dissections associated with skeletal abnormalities. We discovered a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22803640
DOI: 10.1111/j.1399-0004.2012.01931.x

Genes

SMAD3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22803640-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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