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Article

Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association.

Medicine - 1 Mar 2009

Prato Alessio Pini, Musso Marco, Ceccherini Isabella, Mattioli Girolamo, Giunta Camilla, Ghiggeri Gian Marco, Jasonni Vincenzo

Abstract excerpt

Congenital anomalies of the kidney and urinary tract (CAKUT) can be associated with Hirschsprung disease (HSCR). Based on the common genetic background of enteric nervous system and kidney development, the reported association of CAKUT and HSCR seems underestimated. Therefore, we designed a prospective study aimed at determining the prevalence of CAKUT in HSCR patients and at identifying RET, glial cell...

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Source

Identifiers

PMID: 19282698
DOI: 10.1097/MD.0b013e31819cf5da

Genes

GDNF
RET

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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