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Article

A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.

Journal of pediatric surgery - 1 Feb 2008

Moore Samuel W, Zaahl Monique G

Abstract excerpt

BACKGROUND: Hirschsprung's disease (HSCR) represents a complex disorder of signaling molecules, resulting from the effects of at least 9 known susceptibility genes. Affected families carry 200 times higher risk, but genetic counseling via pedigree analysis is difficult and the significance of genetic variations is unclear. This study evaluated a set of patients affected by HSCR with familial recurrence to...

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Identifiers

PMID: 18280283
DOI: 10.1016/j.jpedsurg.2007.10.021

Genes

RET
EDNRB

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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