Case Report: FBN1 mutation screening in South African patients with Marfan syndrome
Marfan syndrome (MFS) is a systemic heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene. Previous studies have documented the clinical utility of FBN1 mutation screening as some nucleotide changes and functional domains are associated with specific clinical presentati...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2025-07-01
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| Col·lecció: | Frontiers in Genetics |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1612411/full |
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