Orthopaedic Problems in Marfan Syndrome
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Publisher
Springer US
Link
http://link.springer.com/content/pdf/10.1007/978-1-4419-9013-6_3.pdf
Reference60 articles.
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2. Kainulainen K, Karttunen L, Puhakka L et al. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet Jan 1994; 6(1):64–69.
3. 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(6333):337–339.
4. Vincent GM. Role of DNA testing for diagnosis, management, and genetic screening in long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome. Heart 2001; 86(1):12–14.
5. Putnam EA, Cho M, Zinn AB et al. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet 1996; 62(3):233–242.
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1. Neuromuscular features in Marfan syndrome;Clinical Genetics;2009-07
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