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Article

High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.

Pediatric surgery international - 22 Jan 2024

Ding Hui-Yang, Lei Wen, Xiao Shang-Jie, Deng Hua, Yuan Li-Ke, Xu Lu, Zhou Jia-Liang, Huang Rong, Fang Yuan-Long, Wang Qing-Yuan, Zhang Ying, Zhang Liang, Zhu Xiao-Chun

Abstract excerpt

PURPOSE: Hirschsprung's disease (HSCR) is the leading cause of neonatal functional intestinal obstruction, which has been identified in many familial cases. HSCR, a multifactorial disorder of enteric nervous system (ENS) development, is associated with at least 24 genes and seven chromosomal loci, with RET and EDNRB as its major genes. We present a genetic investigation of familial HSCR to clarify the...

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Source

Identifiers

PMID: 38253735
DOI: 10.1007/s00383-023-05620-w

Genes

EDNRB
RET

Variants

Provenance

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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High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.PMID 38253735Read ↗

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