Article

Single-cell RNA sequencing in Hirschsprung’s disease tissues reveals lack of neuronal differentiation in the aganglionic colon segment

2025-07-04

Abstract excerpt

The enteric nervous system (ENS) is a complex network of neurons and glial cells. Hirschsprung’s disease (HSCR) is a congenital condition characterized by the absence of ganglion cells in the distal colon, leading to functional bowel obstruction. In this study, we used single-cell RNA sequencing (scRNA-seq) and whole genome sequencing (WGS) to analyze healthy and aganglionic colon segments from HSCR patients. Usin...

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Literature Corpus work: 1cf3b376-9763-58e9-b92e-36983d4e8ff9
DOI: 10.1101/2025.07.01.662516

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