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Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Scientific reports - 9 Sept 2016

Yang Hang, Luo Mingyao, Fu Yuanyuan, Cao Yandong, Yin Kunlun, Li Wenke, Meng Chunjie, Ma Yanyun, Zhang Jing, Fan Yuxin, Shu Chang, Chang Qian, Zhou Zhou

Abstract excerpt

Inherited aortopathy, which is characterized by a high risk of fatal aortic aneurysms/dissections, can occur secondarily to several syndromes. To identify genetic mutations and help make a precise diagnosis, we designed a gene panel containing 15 genes responsible for inherited aortopathy and tested 248 probands with aortic disease or Marfan syndrome. The results showed that 92 individuals (37.1%) tested positive...

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Identifiers

PMID: 27611364
DOI: 10.1038/srep33002
PMCID: PMC5017237

Genes

FBN1

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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