Article
A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression.
PloS one - 30 Nov 2010
Lima Bruno L, Santos Enrico J C, Fernandes Gustavo R, Merkel Christian, Mello Marco R B, Gomes Juliana P A, Soukoyan Marina, Kerkis Alexandre, Massironi Silvia M G, Visintin José A, Pereira Lygia V
Abstract excerpt
Marfan syndrome is an autosomal dominant disease of connective tissue caused by mutations in the fibrillin-1 encoding gene FBN1. Patients present cardiovascular, ocular and skeletal manifestations, and although being fully penetrant, MFS is characterized by a wide clinical variability both within...
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