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Article

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2006

Ruiz-Ferrer Macarena, Fernández Raquel M, Antiñolo Guillermo, López-Alonso Manuel, Eng Charis, Borrego Salud

Abstract excerpt

PURPOSE: The RET proto-oncogene is considered to be the major susceptibility gene involved in Hirschsprung disease. Traditional RET germline mutations account for a small subset of Hirschsprung disease patients, but several studies have shown that there is a specific haplotype of RET associated with the sporadic forms of Hirschsprung disease. We have investigated for RET germline mutations and analyzed the RET...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17108762
DOI: 10.1097/01.gim.0000245632.06064.f1

Genes

RET

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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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A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.PMID 17108762Read ↗

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