Article
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.
BMC genomics - 12 Sept 2007
Yao Zizhen, Jaeger Jochen C, Ruzzo Walter L, Morale Cecile Z, Emond Mary, Francke Uta, Milewicz Dianna M, Schwartz Stephen M, Mulvihill Eileen R
Abstract excerpt
BACKGROUND: Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in the fibrillin-1 gene. This syndrome constitutes a significant identifiable subtype of aortic aneurysmal disease, accounting for over 5% of ascending and thoracic aortic aneurysms. RESULTS: We used s...
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