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Identification of a novel pathogenic variant in FBN1 associated with Marfan syndrome
Aortic diseases arising in Marfan syndrome (MFS), such as in aneurysms and dissections of the thoracic aorta, are related to genetic alterations in the FBN1 gene. Databases, such as Universal Mutations-FBN1, ClinVar, and The Human Gene Mutation, contain more than a thousand FBN1 mutations associated...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235843/ https://www.ncbi.nlm.nih.gov/pubmed/35589387 http://dx.doi.org/10.1101/mcs.a006215 |