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Article

RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.

PloS one - 1 Jan 2014

Vaclavikova Eliska, Dvorakova Sarka, Skaba Richard, Pos Lucie, Sykorova Vlasta, Halkova Tereza, Vcelak Josef, Bendlova Bela

Abstract excerpt

Hirschsprung disease (HSCR) is a congenital aganglionosis of myenteric and submucosal plexuses in variable length of the intestine. This study investigated the influence and a possible modifying function of RET proto-oncogene's single nucleotide polymorphisms (SNPs) and haplotypes in the development and phenotype of the disease in Czech patients. Genotyping of 14 SNPs was performed using TaqMan Genotyping Assays...

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Identifiers

PMID: 24897126
DOI: 10.1371/journal.pone.0098957
PMCID: PMC4045806

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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