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Article

Isolated intestinal ganglioneuromatosis with a new mutation of RET proto-oncogene.

European journal of gastroenterology & hepatology - 1 Jul 2006

Nguyen An T T, Zacharin Margaret R, Smith Margaret, Hardikar Winita

Abstract excerpt

A 13-year-old boy with a history of juvenile polyps of the colon was subsequently found to have isolated intestinal ganglioneuromatosis without any other features characteristic of multiple endocrine neoplasia (MEN) 2B. Screening for MEN 2B revealed a polymorphism of the RET proto-oncogene at codon 691 with a glycine to serine conversion. This mutation has not been described before in association with...

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Source

Identifiers

PMID: 16772843
DOI: 10.1097/01.meg.0000224473.66675.ad

Genes

RET

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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