1. McKusick VA. Historical introduction. The Marfan syndrome: From clinical delineation to mutational characterization, a semiautobiographic account. In: Robinson PN, Godfrey M (ed.) Marfan Syndrome: A Primer for Clinicians and Scientists. New York: Kluwer Academic/Plenum Publishers, 2004; 1–12.
2. Pyeritz RE. The Marfan syndrome. Annu Rev Med 2000;51:481–510.
3. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337–9.
4. Pyeritz RE. Marfan syndrome and other disorders of fibrillin. In: Rimoin DL, Connor, JM and Pyeritz, RE (ed.) Principles and Practice of Medical Genetics. New York: Churchill Livingstone, 3rd Ed. 1997; 1027–66.
5. Lipscomb KJ, Clayton-Smith J, Harris R. Evolving phenotype of Marfan’s syndrome. Arch Dis Child 1997;7:41–6.