Aneurysms-Osteoarthritis Syndrome, 2017, p.55-61
2017
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Details
- Autor(en) / Beteiligte
- Titel
- Chapter 4b - Loeys-Dietz Syndrome
- Ist Teil von
- Aneurysms-Osteoarthritis Syndrome, 2017, p.55-61
- Ort / Verlag
- United States: Elsevier Inc
- Erscheinungsjahr
- 2017
- Beschreibungen/Notizen
- Loeys-Dietz syndrome is a Marfan-like aortic aneurysm syndrome. Initially, in its most typical presentation, it was associated with hypertelorism, cleft palate/bifid uvula, and widespread aortic/arterial aneurysm and tortuosity, but more recently a widespread clinical spectrum has been described. Mutations in genes coding for different components of the TGF-β signaling (TGFBR1/2, SMAD3, TGFB2/3) cause this disease. Early recognition and appropriate management should be life-saving measures.
- Sprache
- Englisch
- Identifikatoren
- ISBN: 9780128027080, 0128027118, 9780128027110, 0128027088DOI: 10.1016/B978-0-12-802708-0.00007-7Titel-ID: cdi_proquest_ebookcentralchapters_4710212_57_70
- Format
- –
- Schlagworte
- aortic aneurysm, genetics, Genetics (non-medical), Loeys-Dietz syndrome, Orthopaedics & fractures, TGFBR1/2