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Article

Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations.

Internal medicine (Tokyo, Japan) - 1 Jan 2009

Yamawaki Tohru, Nagaoka Kazuhiro, Morishige Kunio, Sadamatsu Kenji, Tashiro Hideki, Yasunaga Hiroshi, Morisaki Hiroko, Morisaki Takayuki

Abstract excerpt

We report three cases of thoracic aortic aneurysm and dissection in a Japanese family. Marfan-related genes were analyzed; FBN1 and TGFBR2 gene mutations were observed in this family.

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Source

Identifiers

PMID: 19336958
DOI: 10.2169/internalmedicine.48.1833

Genes

FBN1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19336958-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations.PMID 19336958Read ↗

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