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Article

Clinical and genetic correlations of familial Hirschsprung's disease.

Journal of pediatric surgery - 1 Feb 2015

Moore Sam W, Zaahl Monique

Abstract excerpt

BACKGROUND: The risk of familial transmission in Hirschsprung's disease (HSCR) currently lacks correlation between the clinical phenotype and the underlying genetic factors. The aim of this study was to clinically evaluate familial HSCR transmission and to correlate with the genetic background. METHODS: Clinical and gene analysis of familial HSCR patients were explored. DNA from 45 patients (35 kindreds) was...

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Source

Identifiers

PMID: 25638620
DOI: 10.1016/j.jpedsurg.2014.11.016

Genes

RET
EDNRB

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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