A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report
BackgroundMarfan Syndrome (MS) is a connective tissue disorder, an autosomal dominant condition mostly caused by variants in the FBN1 gene, which encodes for fibrillin-1 protein. Anomalies in the gene lead to a wide variety of clinical manifestations, including disorders of the cardiac, ocular and m...
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| Главные авторы: | , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Frontiers Media S.A.
2025-03-01
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| Серии: | Frontiers in Pediatrics |
| Предметы: | |
| Online-ссылка: | https://www.frontiersin.org/articles/10.3389/fped.2025.1549504/full |
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