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A novel variant in fibrillin-1 is responsible for early-onset familial thoracic aortic aneurysms in Marfan patients
BACKGROUND: Marfan syndrome (MFS) is an inherited connective tissue disorder that affects the skeletal, ocular, and cardiovascular system. The disease’s severity and clinical manifestations vary greatly due to pathogenic variants which, combined with a lack of research on the correlation between MFS...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421937/ https://www.ncbi.nlm.nih.gov/pubmed/34532377 http://dx.doi.org/10.21037/atm-21-3104 |