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...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Groth, Kristian A., Hove, Hanne, Kyhl, Kasper, Folkestad, Lars, Gaustadnes, Mette, Vejlstrup, Niels, Stochholm, Kirstine, Østergaard, John R., Andersen, Niels H., Gravholt, Claus H.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4668669/
https://ncbi.nlm.nih.gov/pubmed/26631233
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0369-8
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