Aneurysms-Osteoarthritis Syndrome —— SMAD3 Gene Mutations

----- 动脉瘤骨关节炎综合征：遗传性胸主动脉疾病

ISBN: 9780128027080 出版年：2016 页码：180 van der Linde, Denise Roos-Hesselink, Jolien L Loeys, Bart Elsevier Science_RM

Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources. Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease.Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient careContains clinical management guidance on optimal cardiovascular treatments and surgeryExplains the autosomal dominant syndromes caused by mutations in the SMAD3 geneIdentifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features