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Article

[A young man with intestinal polyposis and epistaxis].

Nederlands tijdschrift voor geneeskunde - 1 Jan 2014

Menko Fred H, Jacobs Maarten A J M, Mager Johannes J, Nicolaï Jan J, Mensenkamp Arjen R, Aalfs Cora M

Abstract excerpt

BACKGROUND: Germline mutations in the SMAD4 gene lead to both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia (HHT). CASE DESCRIPTION: A 23-year-old man underwent colectomy with ileo-anal pouch anastomosis at the age of 12 due to colorectal juvenile polyposis. At follow-up, recurrent juvenile polyps in the pouch were removed. No gastric polyps were found. The family history was negative for...

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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

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Source

Identifiers

PMID: 25269631

Genes

SMAD4

Variants

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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