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Article

Intronic RET gene variants in Down syndrome-associated Hirschsprung disease in an African population.

Journal of pediatric surgery - 1 Feb 2012

Moore Samuel W, Zaahl Monique G

Abstract excerpt

BACKGROUND: Clinical association between Hirschsprung disease (HD) and Down syndrome (DS) is well established. RET promoter and intron 1 variations have been shown to interfere with RET function, increasing the risk of HD pathogenesis. The intronic single-nucleotide polymorphism 2 (SNP2 [rs2435357]) has been associated with DS-associated HD (DS-HD). This study focuses on variations of specific RET intron, 1 SNPs...

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Source

Identifiers

PMID: 22325379
DOI: 10.1016/j.jpedsurg.2011.11.018

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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