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Author

Pengzhi Hu

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Aug 2026

Three FBN1 pathogenic variants in Chinese patients with Marfan syndrome: Two novel variants including a splicing-altering deletion with functional verification.

In this study, pathogenic FBN1 variants were identified in three patients, thereby confirming the clinical diagnosis of MFS and contributing two novel variants to the FBN1 variant repository, and provide a comparative assessment of genotype-phenotype correlations.

Xing Zhao, L. Yuan, Yan Sun et al. · 0 citations