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2023	Identification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing Functional & Integrative Genomics Xiaoqiang Xiao, Yuqiang Huang, Jianqiang Zhang, Yingjie Cao, Mingzhi Zhang
2021	Updated genetic studies of Marfan syndrome in China Intractable & Rare Diseases Research Yuxin Sun, Di Zhou, Shouhua Wang, Jun Ding, Fei Ma
2021	Sudden death due to a novel nonsense mutation in Marfan syndrome Legal Medicine Shuquan Zhao, Yijie Duan, Longda Ma, Qing Shi, Kang Wang, Yiwu Zhou
2020	Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome Global Medical Genetics Sinem Yalcintepe, Selma Demir, Emine Ikbal Atli, Murat Deveci, Engin Atli, Hakan Gurkan
2020	An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene Clinical Case Reports Omid Daneshjoo, Leila B. Salehi, Antonio Pizzuti, Giuseppe Novelli, Federica Sangiuolo
2020	A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report BMC Medical Genetics Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao