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    Heterozygous TGFBR2 mutations in Marfan syndrome

    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). ...

    Takeshi Mizuguchi, Gwenaëlle Collod-Beroud, Takushi Akiyama… in Nature Genetics (2004)