Article
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
Clinical genetics - 1 Sept 2012
Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan-Kirchner M, Rybczynski M, Bernhardt A M, Habermann C R, Hillebrand M, Mir T, Robinson P N, Berger J, Detter C, Blankenberg S, Schmidtke J, von Kodolitsch Y
Abstract excerpt
Marfan syndrome is considered a clinical diagnosis. Three diagnostic classifications comprising first, Marfan genotype with a causative FBN1 gene mutation; second, Marfan phenotype with clinical criteria of the original Ghent nosology (Ghent-1); and third, phenotype with clinical criteria of its current revision (Ghent-2) in 300 consecutive persons referred for confirmation or exclusion of Marfan syndrome (150...
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