Molecular genetics of Marfan syndrome
Abstract
Purpose of review Marfan syndrome, the founding member of connective tissue disorders, is characterized by involvement of three major systems (skeletal, ocular, and cardiovascular) due to alteration in microfibrils. FBN1 at 15q21.1 was found to cause Marfan syndrome in 1991, and in 2004 TGFBR2 at 3p24.1 was newly identified as the Marfan syndrome type II gene. Several studies implied that fibrillin-1 and transforming growth factor-β (TGF-β)...
Paper Details
Title
Molecular genetics of Marfan syndrome
Published Date
May 1, 2005
Volume
20
Issue
3
Pages
194 - 200
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