Prevalence, incidence, and age at diagnosis in Marfan Syndrome-Reference-Cited by-同舟云学术

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

Published:2015-12 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Groth Kristian A.^ORCID,Hove Hanne,Kyhl Kasper,Folkestad Lars,Gaustadnes Mette,Vejlstrup Niels,Stochholm Kirstine,Østergaard John R.,Andersen Niels H.,Gravholt Claus H.

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0369-8

Reference29 articles.

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2. Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 1988;29(3):581–94.

3. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352(6333):337–9.

4. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62(4):417–26.

5. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–85.

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