Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.

doi:10.1371/journal.pone.0096387

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Article

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.

PloS one - 1 Jan 2014

Aubart Mélodie, Gobert Delphine, Aubart-Cohen Fleur, Detaint Delphine, Hanna Nadine, d'Indya Hyacintha, Lequintrec Janine-Sophie, Renard Philippe, Vigneron Anne-Marie, Dieudé Philippe, Laissy Jean-Pierre, Koch Pierre, Muti Christine, Roume Joelle, Cusin Veronica, Grandchamp Bernard, Gouya Laurent, LeGuern Eric, Papo Thomas, Boileau Catherine, Jondeau Guillaume

Abstract excerpt

BACKGROUND: Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined. METHODS: All SMAD3 gene mutation carriers coming to our centre and their families were investigated prospectively with a structured panel including standardized clinical workup, blood tests, total body computed tomography, joint...

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Identifiers

PMID: 24804794
DOI: 10.1371/journal.pone.0096387
PMCID: PMC4012990

Genes

SMAD3

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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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