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Ectopia lentis phenotypes and the FBN1 gene.
Adès LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B. Adès LC, et al. Am J Med Genet A. 2004 Apr 30;126A(3):284-9. doi: 10.1002/ajmg.a.20605. Am J Med Genet A. 2004. PMID: 15054843 Review.
Mutations of the fibrillin-1 (FBN1) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the "MASS" phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia …
Mutations of the fibrillin-1 (FBN1) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neona …
Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.
Hubmacher D, Apte SS. Hubmacher D, et al. Cell Mol Life Sci. 2011 Oct;68(19):3137-48. doi: 10.1007/s00018-011-0780-9. Epub 2011 Aug 20. Cell Mol Life Sci. 2011. PMID: 21858451 Free PMC article. Review.
FBN1 mutations typically cause the Marfan syndrome, an autosomal dominant disorder manifesting with skeletal overgrowth, aortic aneurysm, and lens dislocation (ectopia lentis). Infrequently, FBN1 mutations cause dominantly inherited Weill-Marchesani sy …
FBN1 mutations typically cause the Marfan syndrome, an autosomal dominant disorder manifesting with skeletal overgrowth, aorti …
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T. Robinson PN, et al. Hum Mutat. 2002 Sep;20(3):153-61. doi: 10.1002/humu.10113. Hum Mutat. 2002. PMID: 12203987 Review.
The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a series of skeletal anomalies. ...FBN1 mutations …
The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical man …
The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN, Godfrey M. Robinson PN, et al. J Med Genet. 2000 Jan;37(1):9-25. doi: 10.1136/jmg.37.1.9. J Med Genet. 2000. PMID: 10633129 Free PMC article. Review.
Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder of connective tissue characterised by pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems. ...Fib …
Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder o …