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Article

Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.

Clinical genetics - 1 Jan 2005

Brooks A S, Oostra B A, Hofstra R M W

Abstract excerpt

Hirschsprung's disease is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. Genetic dissection was successful as nine genes and four loci for Hirschsprung's disease susceptibility were identified. Different approaches were used to find these loci such as classical linkage in large families, identity by descent mapping in an inbred kindred,...

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Identifiers

PMID: 15617541
DOI: 10.1111/j.1399-0004.2004.00319.x

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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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