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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group US 2021
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Article
Online adgang: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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