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Article

[A case of combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with SMAD4 mutation].

Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology - 1 Jan 2013

Sumitomo Yasuhiko, Yamashita Yukimasa, Itai Ryosuke, Ono Hiroshi, Yamada Satoshi, Matsumoto Yoshihide, Kimura Yoshito, Ikeda Eiji, Takada Mariko, Mikami Sakae

Abstract excerpt

A 47-year-old man was found to have abnormal findings on chest radiography. Chest computed tomography (CT) and magnetic resonance imaging (MRI) showed that he had a pulmonary arteriovenous malformation. He had experienced epistaxis when he was a junior high school student, and since then, the symptom had frequently recurred. Further, he had telangiectasia on the lips. Thus, he was given a diagnosis of hereditary...

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Share to SMAD4 gene
Share to Intestinal Polyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Neoplastic Syndromes, Hereditary

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Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 23303231

Genes

SMAD4

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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