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Article

Potential association between ITPKC genetic variations and Hirschsprung disease.

Molecular biology reports - 1 Jul 2017

Kim Jeong-Hyun, Jung Soo-Min, Shin Joong-Gon, Cheong Hyun Sub, Seo Jeong-Meen, Kim Dae-Yeon, Oh Jung-Tak, Kim Hyun-Young, Jung Kyuwhan, Shin Hyoung Doo

Abstract excerpt

Hirschsprung disease (HSCR) is a congenital and complex disorder characterized by intestinal obstruction due to the absence of enteric neurons along variable lengths of the hindgut. Our recent genome-wide association study (GWAS) has revealed regional associations with HSCR at several loci of inositol-trisphosphate 3-kinase C (ITPKC). For fine mapping, we additionally selected and genotyped a total of 12 single...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28664405
DOI: 10.1007/s11033-017-4111-6

Genes

ITPKC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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