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Article

NRG1 variant effects in patients with Hirschsprung disease.

BMC pediatrics - 4 Sept 2018

Gunadi, Budi Nova Yuli Prasetyo, Sethi Raman, Fauzi Aditya Rifqi, Kalim Alvin Santoso, Indrawan Taufik, Iskandar Kristy, Makhmudi Akhmad, Adrianto Indra, San Lai Poh

Abstract excerpt

BACKGROUND: Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines resulting in functional bowel obstruction. Mutations in neuregulin 1 (NRG1) gene have been implicated in some cases of intestinal aganglionosis. This study aims to investigate the contribution of the NRG1 gene to HSCR development in an Indonesian population. METHODS: We...

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Identifiers

PMID: 30180823
DOI: 10.1186/s12887-018-1265-x
PMCID: PMC6123906

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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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