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

Aubart, Mélodie

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition. [electronic resource] - PloS one 2014 - e96387 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1932-6203

10.1371/journal.pone.0096387 doi


Adolescent
Adult
Aged
Aortic Dissection--genetics
Aortic Aneurysm, Thoracic--genetics
Autoimmune Diseases--genetics
Charcot-Marie-Tooth Disease--genetics
Child
Child, Preschool
Death, Sudden
Female
Humans
Male
Middle Aged
Mutation
Osteoarthritis--genetics
Pedigree
Phenotype
Smad3 Protein--genetics
Syndrome
Young Adult