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Unraveling the molecular basis of clinical heterogeneity in Hirschsprung disease through gene expression analysis.

Pediatric surgery international - 8 May 2026

Isa Muntadhar M, Syukri Maimun, Muchlisin Z A, Gunadi, Syahputra Dian Adi, Yusriadi Teuku, Muzakkir Yumna, Kamarlis Reno Keumalazia, Effendy Zulham, Setyadi Ahmad, Maghfirah Siti, Rinanda Tristia

Abstract excerpt

PURPOSE: To assess the association of RET, NRG1, SEMA3, and RARB gene variants with clinical phenotypes of Hirschsprung disease (HSCR) in a population with limited genetic data (Aceh, Indonesia). METHODS: This study employed an observational analytical design with a cross-sectional approach. A total of 57 patients who underwent HSCR surgery were included. Demographic, clinical, and histopathological data were...

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Identifiers

PMID: 42101681
DOI: 10.1007/s00383-026-06453-z

Genes

NRG1
RET
RARB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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