Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome.

doi:10.1161/CIRCGEN.117.002058

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Article

Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome.

Circulation. Genomic and precision medicine - 1 Jun 2018

Takeda Norifumi, Inuzuka Ryo, Maemura Sonoko, Morita Hiroyuki, Nawata Kan, Fujita Daishi, Taniguchi Yuki, Yamauchi Haruo, Yagi Hiroki, Kato Masayoshi, Nishimura Hiroshi, Hirata Yoichiro, Ikeda Yuichi, Kumagai Hidetoshi, Amiya Eisuke, Hara Hironori, Fujiwara Takayuki, Akazawa Hiroshi, Suzuki Jun-Ichi, Imai Yasushi, Nagai Ryozo, Takamoto Shinichi, Hirata Yasunobu, Ono Minoru, Komuro Issei

Abstract excerpt

BACKGROUND: Marfan syndrome can cause life-threatening aortic complications. We investigated the relationship between FBN1 genotype and severe aortopathy (aortic root replacement, type A dissections, and related death). METHODS: We evaluated 248 patients with pathogenic or likely pathogenic FBN1 variants. The variants were classified as haploinsufficient type (HI, n=93) or dominant-negative type (DN, n=155) based...

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PMID: 29848614
DOI: 10.1161/CIRCGEN.117.002058

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FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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