Marfan syndrome: clinical diagnosis and management
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/5201851.pdf
Reference73 articles.
1. Gray JR, Bridges AB, West RR et al: Life expectancy in British Marfan syndrome populations. Clin Genet 1998; 54: 124–128.
2. Dietz HC, Cutting GR, Pyeritz RE et al: Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337–339.
3. Dietz HC, Pyeritz RE : Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995; 4: 1799–1809.
4. Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A : Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med 2001; 161: 2447–2454.
5. Loeys B, De Backer J, Acker P et al: Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 2004; 24: 140–146.
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