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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257477/
https://www.ncbi.nlm.nih.gov/pubmed/33731877
http://dx.doi.org/10.1038/s41436-021-01132-x

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