Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

doi:10.1136/jmedgenet-2011-100382

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Article

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

Journal of medical genetics - 1 Jan 2012

van de Laar Ingrid M B H, van der Linde Denise, Oei Edwin H G, Bos Pieter K, Bessems Johannes H, Bierma-Zeinstra Sita M, van Meer Belle L, Pals Gerard, Oldenburg Rogier A, Bekkers Jos A, Moelker Adriaan, de Graaf Bianca M, Matyas Gabor, Frohn-Mulder Ingrid M E, Timmermans Janneke, Hilhorst-Hofstee Yvonne, Cobben Jan M, Bruggenwirth Hennie T, van Laer Lut, Loeys Bart, De Backer Julie, Coucke Paul J, Dietz Harry C, Willems Patrick J, Oostra Ben A, De Paepe Anne, Roos-Hesselink Jolien W, Bertoli-Avella Aida M, Wessels Marja W

Abstract excerpt

BACKGROUND: Aneurysms-osteoarthritis syndrome (AOS) is a new autosomal dominant syndromic form of thoracic aortic aneurysms and dissections characterised by the presence of arterial aneurysms and tortuosity, mild craniofacial, skeletal and cutaneous anomalies, and early-onset osteoarthritis. AOS...

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Identifiers

PMID: 22167769
DOI: 10.1136/jmedgenet-2011-100382

Genes

SMAD3
FBN1
TGFBR1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22167769-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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