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

doi:10.1038/s41436-021-01132-x

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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021

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

Abstract excerpt

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 1,575 consecutive MFS probands and relatives from the most comprehensive database worldwide, we established survival...

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PMID: 33731877
DOI: 10.1038/s41436-021-01132-x
PMCID: PMC8257477

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