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Article

Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation.

Familial cancer - 1 Apr 2019

de Leon Maurizio Ponz, Pedroni Monica, Viel Alessandra, Luppi Claudio, Conigliaro Rita, Domati Federica, Rossi Giuseppina, Bonetti Luca Reggiani

Abstract excerpt

Relatively little is known on the genotype-phenotype correlations between SMAD4 gene mutations, juvenile polyposis of the intestine and Hereditary Hemorrhagic Teleangectasia. We describe a family in which the proband (a 46-year old woman) had massive polyposis of the stomach-leading to surgery-with high-grade dysplasia at histology. Molecular analysis was carried out using Next Generation sequencing techniques...

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Identifiers

PMID: 30196345
DOI: 10.1007/s10689-018-0100-8

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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.

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