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Article

Tissue specific somatic mutations and aganglionosis in Hirschsprung's disease.

Journal of pediatric surgery - 1 Feb 2014

Moore Sam W, Zaahl Monique G

Abstract excerpt

BACKGROUND: RET proto-oncogene intron 1 variations [e.g. SNP1 (rs2506004) and SNP2 (rs 2435357)] have been shown to be etiologically important in the pathogenesis of Hirschsprung's disease (HSCR). Although activating somatic RET rearrangements have been identified in certain tumours, this is the first study to confirm somatic gene variation in HSCR. METHODS: DNA was extracted from 53 paraffin embedded tissue...

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Source

Identifiers

PMID: 24528961
DOI: 10.1016/j.jpedsurg.2013.11.035

Genes

RET

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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