| 1 | FBN1, LDS1A, LDS2B, MFS1, MFS2, TGFBR1, TGFBR2
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| Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
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| Chung BH, Lam ST, Tong TM, Li SY, Lun KS, Chan DH, Fok SF, Or JS, Smith DK, Yang W, Lau YL.
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| Am J Med Genet A 149A(7):1452-9. 2009
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| 2 | FBN1, MFS1, FBN2, CCA, TGFBR2, MFS2
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| Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
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| Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N.
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| Am J Med Genet A 140(16):1719-25. 2006
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| 3 | TGFB2, MFS2
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| Mutations in TGF-beta receptor type-2 cause Marfan's syndrome.
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| Helm J, Macdonald M.
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| Clin Genet 67(1):26-27. No abstract available. 2005
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| 4 | LDS1A, LDS2B, MFS2, TGFBR1, TGFBR2
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| A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
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| Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC.
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| Nat Genet 37(3):275-81. Epub 2005 Jan 30. 2005
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| 5 | FTAA2, MFS1, MFS2, FTAA1, CHAR, TFAP2B, TAA
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| Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.
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| Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X.
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| Eur J Hum Genet 12(3):173-80. 2004
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| 6 | TGFBR2, MFS2
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| Heterozygous TGFBR2 mutations in Marfan syndrome.
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| Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N.
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| Nat Genet 36(8):855-60. Epub 2004 Jul 04. 2004
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| 7 | MFS2
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| Marfan like phenotypes caused by mutations in LTBP-2. (abstr)
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| Mathews KR, et al.
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| Am J Hum Genet 61 : A44. 1997
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| 8 | FBLN2, MFS2
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| Fibulin-2 : genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.
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| Collod G, et al.
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| Eur J Hum Genet 4 : 292-295. 1996
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| 9 | MFS1, MFS2
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| The question of heterogeneity in Marfan syndrome.
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| Boileau C, et al.
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| Nat Genet 9 : 228-229. 1995
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| 10 | MFS1, MFS2
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| The question of heterogeneity in Marfan syndrome in reply.
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| Dietz H, et al.
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| Nat Genet 9 : 229-230. 1995
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| 11 | MFS2
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| A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.
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| Collod G, et al.
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| Nat Genet 8 : 264-268. 1994
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