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...
Kaydedildi:
| Asıl Yazarlar: | , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wiley
2025-01-01
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| Seri Bilgileri: | Case Reports in Medicine |
| Online Erişim: | http://dx.doi.org/10.1155/carm/8854360 |
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