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 |
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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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| _version_ | 1850214870447816704 |
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| author | Dominique Bouhamdani Véronique Allain Nadia Bouhamdani Mouna Ben Amor |
| author_facet | Dominique Bouhamdani Véronique Allain Nadia Bouhamdani Mouna Ben Amor |
| author_sort | Dominique Bouhamdani |
| collection | DOAJ |
| description | 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 testing and cascade screening in connective tissue disorders. |
| format | Article |
| id | doaj-art-c72eae9ecbb64eef8c2c76ba867e368d |
| institution | OA Journals |
| issn | 1687-9635 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-c72eae9ecbb64eef8c2c76ba867e368d2025-08-20T02:08:46ZengWileyCase Reports in Medicine1687-96352025-01-01202510.1155/carm/8854360The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based EvaluationDominique Bouhamdani0Véronique Allain1Nadia Bouhamdani2Mouna Ben Amor3Research and Health Evaluation DepartmentNew Brunswick Center for Medical EducationResearch and Health Evaluation DepartmentResearch and Health Evaluation DepartmentConclusion: 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 testing and cascade screening in connective tissue disorders.http://dx.doi.org/10.1155/carm/8854360 |
| spellingShingle | Dominique Bouhamdani Véronique Allain Nadia Bouhamdani Mouna Ben Amor The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation Case Reports in Medicine |
| title | The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation |
| title_full | The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation |
| title_fullStr | The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation |
| title_full_unstemmed | The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation |
| title_short | The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation |
| title_sort | reclassification of a fbn1 variant of unknown significance associated with marfan syndrome through careful clinical correlation and family based evaluation |
| url | http://dx.doi.org/10.1155/carm/8854360 |
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