Identification and Functional Validation of a Novel FBN1 Variant in a Marfan Syndrome Family Using a Zebrafish Model

Shitong Huang, Jiansong Chen, Qiuyu Wang, Ruyue Zhang,Jian Zhuang, Ruiyuan Huang, Changjiang Yu,Miaoxian Fang, Haishan Zhao,Liming Lei

BMC Genomics（2025）

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Marfan syndrome,FBN1,Novel pathogenic variant,Nonsense mutation,Zebrafish,Lipid metabolism

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