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Article

Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.

American journal of medical genetics. Part A - 1 Oct 2005

Handra-Luca Adriana, Condroyer Christel, de Moncuit Céline, Tepper Maryline, Fléjou Jean-François, Thomas Gilles, Olschwang Sylviane

Abstract excerpt

Juvenile polyposis syndrome is a hamartomatous intestinal polyposis associated with malignant changes in 20% of patients at an early age. Germline mutations mostly involve two genes, SMAD4 and BMPR1, with no strong evidence of phenotype-genotype correlation, which could be predictive of the specific long-term evolution. In contrast, PTEN mutations are more commonly associated with Cowden and related diseases....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16152648
DOI: 10.1002/ajmg.a.30897

Genes

SMAD4
PTEN

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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