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1) Marfan AB. Un cas de deformation congenitale des quatre membres, plue prononcee aux extremities, caracterisee par l'allongement des os avec un certain degre d'amincissement. Bul Sco Chir Paris. 1896; 13: 220-5
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2) De Paep A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996; 62: 417-26
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3) Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991; 352: 337-9
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4) Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004; 36: 855-60
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5) Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005; 37: 275-81
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6) Faivre L, Collod-Beroud G, Loeys BL, et al. Effect of mutation type and location on clinical outcome in 1, 013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: An international study. Am J Hum Genet. 2007; 81: 454-66
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7) Judge DP, Biery NJ, Keene DR, et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest. 2004; 114: 172-81
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8) Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003; 33: 407-11
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9) Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006; 312: 117-21
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