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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Detalles Bibliográficos
Autores principales: Arnaud, Pauline, Morel, Hélène, Milleron, Olivier, Gouya, Laurent, Francannet, Christine, Da Costa, Antoine, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Hanna, Nadine
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/PMC8105163/
https://www.ncbi.nlm.nih.gov/pubmed/33495528
http://dx.doi.org/10.1038/s41436-020-01078-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105163/
https://www.ncbi.nlm.nih.gov/pubmed/33495528
http://dx.doi.org/10.1038/s41436-020-01078-6

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