Associated Papers
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
Kang H et al.
The Journal of Experimental Medicine, 2020
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler EM et al.
Journal of Medical Genetics, 2019
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms.
Courtois A et al.
European Journal of Medical Genetics, 2017
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.
Zhang W et al.
Biomed Research International, 2015
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
Aubart M et al.
Plos One, 2014
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