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Article

A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family.

Clinica chimica acta; international journal of clinical chemistry - 1 Sept 2016

Li Yapeng, Xu Jianhua, Chen Mingjie, Du Binbin, Li Qiaoli, Xing Qinghe, Zhang Yanzhou

Abstract excerpt

BACKGROUND: Previous studies demonstrated that patients with different FBN1 mutations often present more considerable phenotypic variation compared to different members of the related family carrying a same mutation. The purpose of our study was to identify pathogenic mutation and provide more information about genotype-phenotypic correlations in a large Chinese family with Marfan syndrome. METHODS: 15 related...

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Source

Identifiers

PMID: 27353645
DOI: 10.1016/j.cca.2016.06.031

Genes

FBN1

Variants

Provenance

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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