Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

PURPOSE: Individuals with mosaic pathogenic variants in the FBN1 gene are mainly described in the course of familial screening. In the literature, almost all these mosaic individuals are asymptomatic. In this study, we report the experience of our team on more than 5,000 Marfan syndrome (MFS) proban...

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Publicado no:Genet Med
Main Authors: Arnaud, Pauline, Morel, Hélène, Milleron, Olivier, Gouya, Laurent, Francannet, Christine, Da Costa, Antoine, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Hanna, Nadine
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/PMC8105163/
https://ncbi.nlm.nih.gov/pubmed/33495528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01078-6
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