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Article

Mutation screening in juvenile polyposis syndrome.

The Journal of molecular diagnostics : JMD - 1 Feb 2006

Pyatt Robert E, Pilarski Robert, Prior Thomas W

Abstract excerpt

Juvenile polyposis syndrome (JPS) is an autosomal dominant cancer predisposition syndrome characterized by congenital anomalies, hamartomatous polyps in the gastrointestinal tract, and the development of tumors in these tissues. The diagnosis of JPS is often difficult because of the phenotypic overlap with other hamartomatous polyposis syndromes. Germline mutations have been identified in MADH4 and BMPR1A, aiding...

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Share to Bone Morphogenetic Protein Receptors, Type I
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neoplastic Syndromes, Hereditary

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Source

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Identifiers

PMID: 16436638
DOI: 10.2353/jmoldx.2006.050072
PMCID: PMC1867574

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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