Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria
Abstract Marfan syndrome (MFS) is a genetic disorder caused by an FBN1 variant and is diagnosed based on the revised Ghent criteria, which incorporate clinical manifestations and genetic testing. Up-to-date FBN1 variant interpretation is crucial for proper diagnosis and management of MFS; however, s...
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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | inglese |
| Pubblicazione: |
2025
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| Accesso online: | https://doi.org/10.1038/s41431-025-01826-9 |
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