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Article

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.

Journal of medical genetics - 1 Aug 2000

Borrego S, Ruiz A, Saez M E, Gimm O, Gao X, López-Alonso M, Hernández A, Wright F A, Antiñolo G, Eng C

Abstract excerpt

BACKGROUND: Hirschsprung disease (HSCR), which may be sporadic or familial, occurs in 1:5000 live births and presents with functional intestinal obstruction secondary to aganglionosis of the hindgut. Germline mutations of the RET proto-oncogene are believed to account for up to 50% of familial cases and up to 30% of isolated cases in most series. However, these series are highly selected for the most obvious and...

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Identifiers

PMID: 10922382
DOI: 10.1136/jmg.37.8.572
PMCID: PMC1734658

Genes

RET

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Source receipt: pubmed, retrieved 7 Sept 2026.

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RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.PMID 10922382Read ↗

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.Semantic proximity Read ↗

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