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Article

Hirschsprung associated GDNF mutations do not prevent RET activation.

European journal of human genetics : EJHG - 1 Mar 2002

Borghini Silvia, Bocciardi Renata, Bonardi Giulia, Matera Ivana, Santamaria Giuseppe, Ravazzolo Roberto, Ceccherini Isabella

Abstract excerpt

Hirschsprung disease (HSCR) is a complex disorder characterised by aganglia of distal gastrointestinal tracts. The highest proportion of both familial and sporadic cases is due to mutations of the RET proto-oncogene. Five germline mutations in the glial cell-line-derived neurotrophic factor (GDNF) gene, one of the RET ligands, have been detected in HSCR patients. Pedigrees analysis and the observed association...

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Identifiers

PMID: 11973622
DOI: 10.1038/sj.ejhg.5200785

Genes

GDNF
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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