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

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

<h4>Background</h4>Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined.<h4>Methods</h4>All SMAD3 gene mutation carriers coming to our centre and their famili...

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Autores principales: Mélodie Aubart, Delphine Gobert, Fleur Aubart-Cohen, Delphine Detaint, Nadine Hanna, Hyacintha d'Indya, Janine-Sophie Lequintrec, Philippe Renard, Anne-Marie Vigneron, Philippe Dieudé, Jean-Pierre Laissy, Pierre Koch, Christine Muti, Joelle Roume, Veronica Cusin, Bernard Grandchamp, Laurent Gouya, Eric LeGuern, Thomas Papo, Catherine Boileau, Guillaume Jondeau
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2014
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/b258039fa84e4152889b19fb87594881
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