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Article

New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2010

Sánchez-Mejías Avencia, Fernández Raquel Maria, López-Alonso Manuel, Antiñolo Guillermo, Borrego Salud

Abstract excerpt

PURPOSE: Hirschsprung disease is characterized by the absence of intramural ganglion cells in the myenteric and submucosal plexuses within distal intestine, because of a fail in the enteric nervous system formations process. Endothelin-3-endothelin receptor B signaling pathway is known to play an essential role in this process. The aim of this study was to evaluate the implication of the EDN3 and EDNRB genes in a...

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Source

Identifiers

PMID: 20009762
DOI: 10.1097/GIM.0b013e3181c371b0

Genes

EDN3
EDNRB

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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