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Article

Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome.

American journal of medical genetics. Part A - 1 Oct 2024

van Weelden Wenneke, Bleeker Fonnet E, van Stijn Diana, Micha Dimitra, Maugeri Alessandra, Kuijpers Taco W, Koch Arjun D, Aalfs Cora M, Wagner Anja, Groenink Maarten, van Oldenrijk Jakob, Baars Marieke J, Duijkers Floor A M

Abstract excerpt

Germline SMAD4 pathogenic variants (PVs) cause juvenile polyposis syndrome (JPS), which is known for an increased risk of gastrointestinal juvenile polyps and gastrointestinal cancer. Many patients with SMAD4 PV also show signs of hereditary hemorrhagic telangiectasia (HHT) and some patients have aneurysms and dissections of the thoracic aorta. Here we describe two patients with a germline SMAD4 PV and a...

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Share to Aneurysm
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Intestinal Polyposis

Share to Neoplastic Syndromes, Hereditary

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Share to Smad4 Protein

Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 38752492
DOI: 10.1002/ajmg.a.63605

Genes

SMAD4

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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