Phenotypic Diversity of Marfan Syndrome

Phenotypic Diversity of Marfan Syndrome

Marfan syndrome (MFS) is a genetic disorder primarily impacting the cardiovascular system, eyes, and skeletal structure, with its root cause being mutations in the FBN1 gene. The condition is notably associated with risks such as aortic aneurysm and aortic dissection, which largely drive mortality a...

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Bibliographic Details
Main Authors: Zixiang Xu, MD, Zhenghong Li, MD, Long Xiang, MD, Tao Chen, MD, Wang Lu, MD, Chang’e Guo, MD, Jinmiao Chen, MD, PhD, Bi’ang Kang, MD, PhD, Zesi Liu, MD, Daokang Xiang, MD, PhD, Liqun Sun, MD, PhD, Kui Hu, MD, PhD
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:JACC: Advances
Subjects:
FBN1 gene
genetic epigenesis
genotype-phenotype
marfan syndrome
modifier gene
phenotypes
Online Access:http://www.sciencedirect.com/science/article/pii/S2772963X25004764
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