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Article

Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.

European journal of human genetics : EJHG - 1 Jun 2018

Tang Clara Sm, Zhuang Xuehan, Lam Wai-Yee, Ngan Elly Sau-Wai, Hsu Jacob Shujui, Michelle Y U, Man-Ting S O, Cherny Stacey S, Ngo Ngoc Diem, Sham Pak C, Tam Paul Kh, Garcia-Barcelo Maria-Mercè

Abstract excerpt

Hirschsprung disease (HSCR) is a complex birth defect characterized by the lack of ganglion cells along a variable length of the distal intestine. A large proportion of HSCR patients remain genetically unexplained. We applied whole-genome sequencing (WGS) on 9 trios where the probands are sporadically affected with the most severe form of the disorder and harbor no coding sequence variants affecting the function...

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Source

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Identifiers

PMID: 29483666
DOI: 10.1038/s41431-018-0129-z
PMCID: PMC5974185

Genes

CCT2
ERBB4
NRG1
VASH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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