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Article

Segregation at three loci explains familial and population risk in Hirschsprung disease.

Nature genetics - 1 May 2002

Gabriel Stacey B, Salomon Rémi, Pelet Anna, Angrist Misha, Amiel Jeanne, Fornage Myriam, Attié-Bitach Tania, Olson Jane M, Hofstra Robert, Buys Charles, Steffann Julie, Munnich Arnold, Lyonnet Stanislas, Chakravarti Aravinda

Abstract excerpt

Hirschsprung disease (HSCR), the most common hereditary cause of intestinal obstruction, shows considerable variation and complex inheritance. Coding sequence mutations in RET, GDNF, EDNRB, EDN3 and SOX10 lead to long-segment (L-HSCR) and syndromic HSCR but fail to explain the transmission of the...

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Source

Identifiers

PMID: 11953745
DOI: 10.1038/ng868

Genes

RET
EDN3
EDNRB
GDNF
SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11953745-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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