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Article

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.

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

Arnaud Pauline, Morel Hélène, Milleron Olivier, Gouya Laurent, Francannet Christine, Da Costa Antoine, Le Goff Carine, Jondeau Guillaume, Boileau Catherine, Hanna Nadine

Abstract excerpt

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) probands. METHODS: Next-generation sequencing (NGS) capture technology allowed us to identify five cases of MFS probands...

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Identifiers

PMID: 33495528
DOI: 10.1038/s41436-020-01078-6
PMCID: PMC8105163

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