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...

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Detalles Bibliográficos
Autores principales: Duan, Yanyu, Chang, Haiying, Ling, Jiayuan, Liu, Shaoqiang, Zhong, Yiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
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

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