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Article

Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.

Journal of medical genetics - 1 Dec 2009

Sánchez-Mejías A, Fernández R M, López-Alonso M, Antiñolo G, Borrego S

Abstract excerpt

BACKGROUND: Hirschsprung disease (HSCR) is a developmental disorder caused by a defect in the neural crest neuroblast migration process. It is considered to be a paradigm of complex disorders, with many loci contributing to manifestation of the disease. Although HSCR commonly appears as a sporadic trait, approximately 20% of HSCR cases are familial, with complex patterns of inheritance. METHOD: A multiplex HSCR...

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Source

Identifiers

PMID: 19556619
DOI: 10.1136/jmg.2009.067819

Genes

EDN3
NTRK3
RET

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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