| 1 | FBN1, FRLS, LDS1A, MFS1, SGS, TGFBR1
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| FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
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| Ades LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, Dixon J, Robertson S, Holmes AD, Rogers J, Bennetts B.
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| Am J Med Genet A 140(10):1047-58. 2006
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| 2 | SGS
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| Shprintzen-Goldberg syndrome : a clinical analysis.
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| Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW.
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| Am J Med Genet 76(3):202-12. 1998
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| 3 | FBN1, SGS
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| P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.
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| Watanabe Y, Yano S, Koga Y, Yukizane S, Nishiyori A, Yoshino M, Kato H, Ogata T, Adachi M.
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| Hum Mutat 10(4):326-7. 1997
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| 4 | ECTL, FBN1, SGS, TAA
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| Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
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| Hayward C, Brock DJ.
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| Hum Mutat 10(6):415-23. Review. 1997
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| 5 | SGS, FBN1
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| Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.
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| Sood S, et al.
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| Nat Genet 12 : 209-211. 1996
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