| 1 | ECTl, FBN1
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| Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).
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| Zhao JH, Jin TB, Liu QB, Chen C, Hu HT.
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| Ophthalmic Genet phthalmic Genet. 2012 Sep 6. [Epub ahead of print]
2012
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| 2 | FBN1, TGFBR1, TGFBR2, ECTL, MFS1, TAA, WMSAD, CCSND1, CCSND2, FRLS
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| Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
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| Mizuguchi T, Matsumoto N.
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| J Hum Genet 52(1):1-12. Epub 2006 Oct 24. Review. 2007
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| 3 | FBN1, ECTL
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| Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.
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| Yu R, Lai Z, Zhou W, Ti DD, Zhang XN.
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| Am J Ophthalmol 141(6):1136-8. 2006
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| 4 | ECTL
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| Ectopia lentis phenotypes and the FBN1 gene.
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| Ades, L. C.; Holman, K. J.; Brett, M. S.; Edwards, M. J.; Bennetts, B.
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| Am. J. Med. Genet. 126A: 284-289. 2004
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| 5 | FBN1, ECTL
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| Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
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| Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH.
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| Br J Ophthalmol 86(12):1359-62. 2002
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| 6 | 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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| 7 | FBN1, ECTL, MFS1
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| Marfan syndrome : fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects.
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| Kielty CM, et al.
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| J Med Genet 32 : 1-6. 1995
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| 8 | FBN1, ECTL, MFS1
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| Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
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| Kainulainen K, et al.
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| Nat Genet 6 : 64-69. 1994
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| 9 | ECTL, FBN1
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| A novel mutation of the fibrillin gene causing ectopia lentis.
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| Lšnnqvist L, et al.
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| Genomics 19 : 573-576. 1994
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| 10 | ECTL, FBN1
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| Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.
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| Edwards MJ, et al.
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| Am J Med Genet 53 : 65-71. 1994
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