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Article

Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population.

PloS one - 1 Jan 2013

Wang Yang, Wang Jun, Pan Weihua, Zhou Ying, Xiao Yongtao, Zhou Kejun, Wen Jie, Yu Tingxi, Cai Wei

Abstract excerpt

Hirschsprung disease (HSCR) is the most frequent genetic cause of congenital intestinal obstruction with an incidence of 1:5000 live births. In a pathway-based epistasis analysis of data generated by genome-wide association study on HSCR, specific genotype of Patched 1 (PTCH1) has been linked to...

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Identifiers

PMID: 24073265
DOI: 10.1371/journal.pone.0075407
PMCID: PMC3779180

Genes

PTCH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24073265-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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