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- W2893815414 abstract "Abstract Marfan syndrome (MFS) is an inherited connective tissue disorder caused by heterozygous mutations in the FBN 1 gene. Clinical manifestations of MFS include aortic dilatation and dissection, as well as cardiac valvular, ocular, skeletal and neurological manifestations. Prevalence varies from 6 to 20 per 100,000 individuals. Revised Ghent Nosology (2010) is used to establish a clinically based suspected diagnosis to be confirmed by molecular testing. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. Molecular testing is useful for diagnosis confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials." @default.
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- W2893815414 date "2018-09-01" @default.
- W2893815414 modified "2023-09-27" @default.
- W2893815414 title "Genetic testing for Marfan syndrome" @default.
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- W2893815414 doi "https://doi.org/10.2478/ebtj-2018-0032" @default.
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