| 1 | CCA, FBN2
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| Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.
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| Lavillaureix A, Heide S, Chantot-Bastaraud S, Marey I, Keren B, Grigorescu R, Jouannic JM, Gelot A, Whalen S, Héron D, Siffroi JP.
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| Clin Genet 92(5):556-558. doi: 10.1111/cge.13062. Epub 2017 Aug 1. No abstract available.
2017
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| 2 | CCA, FBN2
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| The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
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| Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G.
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| Hum Mutat 30(2):181-90.
2009
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| 3 | CCA, FBN2
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| FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
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| Nishimura A, Sakai H, Ikegawa S, Kitoh H, Haga N, Ishikiriyama S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N.
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| Am J Med Genet A 143(7):694-8. 2007
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| 4 | 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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| 5 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
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| Ocular coloboma: a reassessment in the age of molecular neuroscience.
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| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
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| J Med Genet 41(12):881-91. 2004
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| 6 | CCA, FBN1, FBN2, AKAP13, LTBP1, LTBP2, LTBP3, LTBP4, MFAP5, MFAP1, MFAP2, MFAP3, MFAP4, MFS1
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| The molecular genetics of Marfan syndrome and related microfibrillopathies.
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| Robinson PN, Godfrey M.
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| J Med Genet 37(1):9-25. Review. 2000
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| 7 | CCA, FBN2
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| Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.
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| Park ES, et al.
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| Am J Med Genet 78 : 350-355. 1998
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| 8 | CCA, FBN2
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| A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.
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| Babcock D, et al.
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| Hum Genet 103 : 22-28. 1998
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| 9 | CCA, FBN2
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| Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.
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| Putnam EA, et al.
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| Am J Hum Genet 60 : 818-827. 1997
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| 10 | CCA, FBN2
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| A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.
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| Maslen C, Babcock D, Raghunath M, Steinmann B.
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| Am J Hum Genet 60(6):1389-98. 1997
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| 11 | CCA, FBN2
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| Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing fo exon 34 of fibrillin-2.
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| Wang M, et al.
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| Am J Hum Genet 59 : 1027-1034. 1996
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| 12 | CCA, FBN2
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| Fibrillin-2(FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
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| Putnam EA, et al.
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| Nat Genet 11 : 456-458. 1995
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| 13 | MFS1, CCA
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| Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5.
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| Tsipouras P, et al.
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| N Engl J Med 326 : 905-909. 1992
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| 14 | MFS1, CCA, FBN1, FBN2
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| Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
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| Lee B, et al.
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| Nature 352 : 330-334. 1991
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