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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...
שמור ב:
| הוצא לאור ב: | Genet Med |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group US
2021
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| נושאים: | |
| גישה מקוונת: | 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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