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Article

Common variants of NRG1 and ITGB4 confer risk of Hirschsprung disease in Han Chinese population.

Journal of pediatric surgery - 1 Dec 2020

Wei Zhiliang, Yu Xianxian, Wu Wenjie, Bai Meirong, Lu Yanjiao, Song Huanlei, Gong Yiming, Gu Beilin, Chu Xun, Cai Wei

Abstract excerpt

BACKGROUND: Hirschsprung disease (HSCR) is a neurodevelopmental disorder with a strong genetic component. Common variants of NRG1 contributed to HSCR risk in Asians, and rare variants of ERBB2 and ITGB4 were found to be associated with HSCR. ERBB2 and ITGB4 are partners of Nrg1/ErbB pathway, which is important in HSCR pathogenesis. We aimed to investigate whether common variants in NRG1, ERBB2 and ITGB4 were...

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Identifiers

PMID: 32418639
DOI: 10.1016/j.jpedsurg.2020.04.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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