Article
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.
Journal of vascular surgery - 1 Jul 2014
Shalhub Sherene, Black James H, Cecchi Alana C, Xu Zhi, Griswold Ben F, Safi Hazim J, Milewicz Dianna M, McDonnell Nazli B
Abstract excerpt
OBJECTIVE: The management of arterial pathology in individuals with vascular Ehlers-Danlos syndrome (vEDS) remains a challenge. Here we describe the correlation between COL3A1 gene mutation type and the clinical phenotype in individuals with vEDS. METHODS: Individuals with confirmed molecular diagnoses of vEDS were enrolled in a multi-institutional natural history study. Data collected included demographics,...
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