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Article

Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.

Molecular neurobiology - 1 Apr 2017

Tang Weibing, Tang Junwei, Zhao Yang, Qin Yufeng, Jin Guangfu, Xu Xiaoqun, Zhu Hairong, Shen Hongbing, Wang Xinru, Hu Zhibing, Xia Yankai

Abstract excerpt

Hirschsprung disease (HSCR) is a rare congenital disease caused by impaired proliferation and migration of neural crest cells. In this study, we aimed to investigate the genetic loci involved in the pathogenesis of HSCR. The exome-wide scan was performed to screen the genetic variants with minor allele frequency (MAF) < 0.05 in exonic regions. Candidate mutation type and the wild type were overexpressed to...

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Source

Identifiers

PMID: 26887379
DOI: 10.1007/s12035-016-9752-2

Genes

ARVCF
COMT
MAF
RHOA

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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