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Article

Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice.

Gastroenterology - 1 Dec 2015

Liu Jessica Ai-Jia, Lai Frank Pui-Ling, Gui Hong-Sheng, Sham Mai-Har, Tam Paul Kwong-Hang, Garcia-Barcelo Maria-Mercedes, Hui Chi-Chung, Ngan Elly Sau-Wai

Abstract excerpt

BACKGROUND & AIMS: Hirschsprung disease is characterized by a deficit in enteric neurons, which are derived from neural crest cells (NCCs). Aberrant hedgehog signaling disrupts NCC differentiation and might cause Hirschsprung disease. We performed genetic analyses to determine whether hedgehog signaling is involved in pathogenesis. METHODS: We performed deep-target sequencing of DNA from 20 patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26261006
DOI: 10.1053/j.gastro.2015.07.060

Genes

SOX10
SUFU
GLI1
GLI2
GLI3

Provenance

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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