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Letter

Nature Genetics 36, 855–860 (1 August 2004) | doi:10.1038/ng1392

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi , Gwena|[euml]|lle Collod-Beroud , Takushi Akiyama , Marianne Abifadel , Naoki Harada , Takayuki Morisaki , Delphine Allard , Mathilde Varret , Mireille Claustres , Hiroko Morisaki , Makoto Ihara , Akira Kinoshita , Koh-ichiro Yoshiura , Claudine Junien , Tadashi Kajii , Guillaume Jondeau , Tohru Ohta , Tatsuya Kishino , Yoichi Furukawa , Yusuke Nakamura , Norio Niikawa , Catherine Boileau & Naomichi Matsumoto

Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at 15q21.1 (ref. 1).