Article
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
European journal of human genetics : EJHG - 1 Dec 2018
Aubart Melodie, Gazal Steven, Arnaud Pauline, Benarroch Louise, Gross Marie-Sylvie, Buratti Julien, Boland Anne, Meyer Vincent, Zouali Habib, Hanna Nadine, Milleron Olivier, Stheneur Chantal, Bourgeron Thomas, Desguerre Isabelle, Jacob Marie-Paule, Gouya Laurent, Génin Emmanuelle, Deleuze Jean-François, Jondeau Guillaume, Boileau Catherine
Abstract excerpt
Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder related to variants in the FBN1 gene. Prognosis is related to aortic risk of dissection following aneurysm. MFS clinical variability is notable, for age of onset as well as severity and number of clinical manifestations. To identify genetic modifiers, we combined genome-wide approaches in 1070 clinically well-characterized FBN1...
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