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Article

Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population.

Pediatric research - 1 Feb 2021

Yu Xian-Xian, Chu Xun, Wu Wen-Jie, Wei Zhi-Liang, Song Huan-Lei, Bai Mei-Rong, Lu Yan-Jiao, Gu Bei-Lin, Gong Yi-Ming, Cai Wei

Abstract excerpt

BACKGROUND: Hirschsprung's disease (HSCR) is the most common congenital cause of intestinal obstruction in children. Sotos syndrome (SoS) is an overgrowth disorder with constipation and sometimes accompanied by HSCR. NSD1 gene mutation is the main cause of SoS. We aimed to investigate association of NSD1 common single nucleotide polymorphisms (SNPs) with HSCR susceptibility in Chinese Han population. METHOD: We...

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PMID: 32380506
DOI: 10.1038/s41390-020-0933-3

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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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