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Article

Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation.

Cardiology in the young - 1 May 2018

Arroyave Jose, Carretero Juan Manuel, Gruosso Domenico

Abstract excerpt

Aneurysm-osteoarthritis syndrome is a recently discovered inherited autosomal dominant connective tissue disease caused by SMAD3 mutations. Aneurysm-osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis. Early-onset osteoarthritis is present...

Read the complete abstract on PubMed

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Share to Aorta
Share to Aortic Aneurysm, Thoracic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Magnetic Resonance Imaging, Cine

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Source

Identifiers

PMID: 29444731
DOI: 10.1017/S1047951118000082

Genes

SMAD3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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