Loeys-Dietz syndrome: A primer for diagnosis and management

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Abstract

Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys-Dietz syndrome. © American College of Medical Genetics and Genomics.

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MacCarrick, G., Black, J. H., Bowdin, S., El-Hamamsy, I., Frischmeyer-Guerrerio, P. A., Guerrerio, A. L., … Dietz, H. C. (2014). Loeys-Dietz syndrome: A primer for diagnosis and management. Genetics in Medicine, 16(8), 576–587. https://doi.org/10.1038/gim.2014.11

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