The Question of Heterogeneity in Marfan Syndrome
De Paepe, Anne
NATURE GENETICS 1995 March; 9(3): 228-229
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Gao, Ling-gen; Yao, Xiu-ping; Zhang, Lin; Hui, Ru-tai; Zhou, Xian-liang (2011-03)Marfan syndrome is a systemic disorder of connective tissue, caused by mutations in the FBN1, TGFBR1 or TGFBR2 genes. This syndrome is characterized by involvement of three major systems, skeletal, ocular, and cardiovascular. ...