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Article

Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.

Journal of gastroenterology - 1 Jul 2012

Schwenter Frank, Faughnan Marie E, Gradinger Abigail B, Berk Terri, Gryfe Robert, Pollett Aaron, Cohen Zane, Gallinger Steven, Durno Carol

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder most often caused by mutation in the endoglin or ALK1 genes. A distinct syndrome combines the clinical features of HHT and juvenile polyposis (JP) and has been associated with SMAD4 mutation. The aim of this study was to describe the phenotype of patients with JP-HHT and SMAD4 mutations and to compare this phenotype with HHT...

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Source

Identifiers

PMID: 22331366
DOI: 10.1007/s00535-012-0545-8

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.

Related research

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