The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation
Conclusion: We highlight the reclassification of a variant of unknown significance through careful clinical correlation and family-based evaluation. This reclassification led to a timely diagnosis and preventive management through cascade testing, demonstrating the real-world utility of genetic test...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/carm/8854360 |
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