Article
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
Genes - 20 May 2020
Grange Thomas, Aubart Mélodie, Langeois Maud, Benarroch Louise, Arnaud Pauline, Milleron Olivier, Eliahou Ludivine, Gross Marie-Sylvie, Hanna Nadine, Boileau Catherine, Gouya Laurent, Jondeau Guillaume
Abstract excerpt
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with considerable inter- and intra-familial clinical variability. The contribution of inherited modifiers to variability has not been quantified. We analyzed the distribution of 23 clinical features in 1306 well-phenotyped MFS patients carrying FBN1 mutations. We found strong correlations between features within the same system (i.e.,...
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