Aneurysms-osteoarthritis syndrome : SMAD3 gene mutations /
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Author / Creator: | Linde, Denise van der |
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Imprint: | London : Academic Press, [2017] ©2017 |
Description: | 1 online resource |
Language: | English |
Subject: | Aneurysms -- Genetic aspects. Osteoarthritis -- Genetic aspects. Molecular biology. MEDICAL -- Genetics. Molecular biology. Aortic Aneurysm, Thoracic. Osteoarthritis. Smad3 Protein -- genetics. Mutation -- genetics. Aortic Diseases -- diagnosis. Thoracic Diseases -- diagnosis. Genetic Diseases, Inborn -- diagnosis. Diagnosis, Differential. Electronic books. |
Format: | E-Resource Book |
URL for this record: | http://pi.lib.uchicago.edu/1001/cat/bib/11736234 |
Summary: | <p> 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.</p> <p>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.</p> Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care Contains clinical management guidance on optimal cardiovascular treatments and surgery Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features |
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Physical Description: | 1 online resource |
Bibliography: | Includes bibliographical references and index. |
ISBN: | 9780128027110 0128027118 9780128027080 0128027088 |