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Article

Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.

World journal of pediatrics : WJP - 1 Jul 2023

Xiao Jun, Hao Lu-Wen, Wang Jing, Yu Xiao-Si, You Jing-Yi, Li Ze-Jian, Mao Han-Dan, Meng Xin-Yao, Feng Jie-Xiong

Abstract excerpt

BACKGROUND: Hirschsprung's disease (HSCR) is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction after birth, causing great physical and mental pain to patients and their families. Studies have shown that more than 20 genes are involved in HSCR, and most cases of HSCR are sporadic. However, the overall rate of familial recurrence in...

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Identifiers

PMID: 36857021
DOI: 10.1007/s12519-023-00686-x
PMCID: PMC10258170

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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