[Clinical manifestation and analysis of FBN1 gene variants in eight patients with Marfan syndrome].

doi:10.3760/cma.j.cn511374-20260203-00063

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[Clinical manifestation and analysis of FBN1 gene variants in eight patients with Marfan syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2026

Wu Renhua, Sun Lei, Liu Baozhu, Fu Xiao, Li Xiaoyan, Wang Yueli

Abstract excerpt

OBJECTIVE: To explore the correlation between clinical manifestations and variants of fibrillin-1 (FBN1) gene in eight patients with Marfan syndrome (MFS). METHODS: Eight patients diagnosed with MFS at Beijing Anzhen Hospital of Capital Medical University between 2016 and 2022 were selected as study subjects. Clinical data of the patients were collected. Whole-exome sequencing was carried out. Candidate variants...

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PMID: 42663022
DOI: 10.3760/cma.j.cn511374-20260203-00063

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FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.