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A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome

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...

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Detalles Bibliográficos
Autores principales: Zhang, Wenwen, Zhou, Min, Liu, Cheng, Liu, Chen, Qiao, Tong, Huang, Dian, Ran, Feng, Wang, Wei, Liu, Changjian, Liu, Zhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499615/
https://www.ncbi.nlm.nih.gov/pubmed/26221609
http://dx.doi.org/10.1155/2015/968135