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Article

Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.

Forensic science international - 1 Apr 2016

Wang Yunyun, Chen Shu, Wang Rongshuai, Huang Sizhe, Yang Mingzhen, Liu Liang, Liu Qian

Abstract excerpt

To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the...

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Source

Identifiers

PMID: 26905825
DOI: 10.1016/j.forsciint.2016.02.013

Genes

FBN1

Variants

rs11853943
rs140598
rs25458

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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