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Prevalence, incidence, and age at diagnosis in Marfan Syndrome
BACKGROUND: Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria hav...
Autores principales: | Groth, Kristian A., Hove, Hanne, Kyhl, Kasper, Folkestad, Lars, Gaustadnes, Mette, Vejlstrup, Niels, Stochholm, Kirstine, Østergaard, John R., Andersen, Niels H., Gravholt, Claus H. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668669/ https://www.ncbi.nlm.nih.gov/pubmed/26631233 http://dx.doi.org/10.1186/s13023-015-0369-8 |
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