Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arter...
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition
About this item
Full title
Author / Creator
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 and Jondeau, Guillaume
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined.
All SMAD3 gene mutation carriers coming to our centre and their families were investigated prospectively with a structured panel including standardized clinical workup, blood...
Alternative Titles
Full title
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1522140937
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1522140937
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0096387
