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Article

Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.

Molecular biology reports - 1 Nov 2016

Wang Jin'e, Yan Yupeng, Chen Jinxing, Gong Ling, Zhang Yu, Yuan Mengmeng, Cui Bing, Wang Yibo

Abstract excerpt

The fibrillin-1 (FBN1) gene mutations result in Marfan syndrome (MFS) and have a variety of phenotypic variations. This disease is involved in the skeletal, ocular and cardiovascular system. Here we analyzed genotype-phenotype correlation in two Chinese families with MFS. Two patients with thoracic aortic aneurysms and dissections were diagnosed as MFS according to the revised Ghent criteria. Peripheral blood...

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Source

Identifiers

PMID: 27558095
DOI: 10.1007/s11033-016-4067-y

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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