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Loeys–Dietz syndrome: a primer for diagnosis and management

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 guideli...

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Detalles Bibliográficos
Autores principales: MacCarrick, Gretchen, Black, James H., Bowdin, Sarah, El-Hamamsy, Ismail, Frischmeyer-Guerrerio, Pamela A., Guerrerio, Anthony L., Sponseller, Paul D., Loeys, Bart, Dietz, Harry C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131122/
https://www.ncbi.nlm.nih.gov/pubmed/24577266
http://dx.doi.org/10.1038/gim.2014.11
Descripción
Sumario: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. Genet Med 16 8, 576–587.