Article
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.
BioMed research international - 1 Jan 2015
Zhang Wenwen, Zhou Min, Liu Cheng, Liu Chen, Qiao Tong, Huang Dian, Ran Feng, Wang Wei, Liu Changjian, Liu Zhao
Abstract excerpt
Aneurysms-osteoarthritis syndrome (AOS) is a recently delineated autosomal dominant disorder characterized by aneurysms, dissections, and tortuosity throughout the arterial tree in association with early onset osteoarthritis, mild craniofacial features, and skeletal and cutaneous anomalies. Previous studies have demonstrated that mutations in SMAD3, a key regulator of TGF-β signal transduction, contribute to AOS....
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