Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

PURPOSE: Marfan syndrome (MFS) is a connective tissue disorder in which several systems are affected with great phenotypic variability. Although known to be associated with pathogenic variants in the FBN1 gene, few genotype–phenotype correlations have been found in proband studies only. METHODS: In...

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Publicado no:Genet Med
Main Authors: Arnaud, Pauline, Milleron, Olivier, Hanna, Nadine, Ropers, Jacques, Ould Ouali, Nadia, Affoune, Amel, Langeois, Maud, Eliahou, Ludivine, Arnoult, Florence, Renard, Philippe, Michelon-Jouneaux, Marlène, Cotillon, Marie, Gouya, Laurent, Boileau, Catherine, Jondeau, Guillaume
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8257477/
https://ncbi.nlm.nih.gov/pubmed/33731877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-021-01132-x
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