The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
The Marfan Syndrome
Abstract
▪ Abstract The Marfan syndrome (MFS), initially described just over 100 years ago, was among the first conditions classified as a heritable disorder of connective tissue. MFS lies at one end of a phenotypic continuum, with people in the general population who have one or another of the features of MFS at the other end, and those with a variety of other conditions in between. Diagnosis of MFS and these other conditions remains based on clinical features. Mutations in FBN1, the gene that encodes fibrillin-1, are responsible for MFS and (in a few patients) other disorders in the continuum. In addition to skeletal, ocular, and cardiovascular features, patients with MFS have involvement of the skin, integument, lungs, and muscle tissue. Over the past 30 years, evolution of aggressive medical and surgical management of the cardiovascular problems, especially mitral valve prolapse, aortic dilatation, and aortic dissection, has resulted in considerable improvement in life expectancy.
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Citations
Cites
International nosology of heritable disorders of connective tissue, Berlin, 1986
Beighton, P., de Paepe, A., Danks, D., Finidori, G., Gedde‐Dahl, T., Goodman, R., Hall, J. G., Hollister, D. W., Horton, W., McKusick, V. A., et al. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320290316 · Cited by 732
Self-citation‘Powerful Placebo: The Dark Side of the Randomised Controlled Trial’
Kaptchuk, T. J. (1998) · The Lancet · doi:10.1016/s0140-6736(97)10111-8 · Cited by 339
Cited by
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Bandelow, B., Zohar, J., Hollander, E., Kasper, S., Möller, H.-J., WFSBP TASK FORCE ON TREATMENT GUIDE, Bandelow, B., Zohar, J., Hollander, E., Kasper, S., et al. (2008) · The World Journal of Biological Psychiatry · doi:10.1080/15622970802465807 · Cited by 854
Maron, B. J., Chaitman, B. R., Ackerman, M. J., Bayés de Luna, A., Corrado, D., Crosson, J. E., Deal, B. J., Driscoll, D. J., Estes, N. A. M., Araújo, C. G. S., et al. (2004) · Circulation · doi:10.1161/01.cir.0000128363.85581.e1 · Cited by 591
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Metadata
- Authors
- Pyeritz, R. E.
- Venue
- Annual Review of Medicine
- Publisher
- Annual Reviews
- Published
- 2000-02
- Volume
- 51
- Issue
- 1
- Pages
- 481-510
- ISSN
- 0066-4219 (ISSN-L)
- 1545-326X
- OpenAlex
- W2021507021
- Cited by
- 515
- References
- 2
- FWCI
- 2.35
- Type
- journal article
- Language
- en
- Open access
- closed
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- Pyeritz, R. E. (2000). The Marfan Syndrome. Annual Review of Medicine. https://doi.org/10.1146/annurev.med.51.1.481
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
