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Article

Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

Journal of human genetics - 1 Aug 2012

Carter Tonia C, Kay Denise M, Browne Marilyn L, Liu Aiyi, Romitti Paul A, Kuehn Devon, Conley Mary R, Caggana Michele, Druschel Charlotte M, Brody Lawrence C, Mills James L

Abstract excerpt

Hirschsprung's disease (HSCR) results from failed colonization of the embryonic gut by enteric neural crest cells (ENCCs); colonization requires RET proto-oncogene (RET) signaling. We sequenced RET to identify coding and splice-site variants in a population-based case group and we tested for associations between HSCR and common variants in RET and candidate genes (ASCL1, homeobox B5 (HOXB5), L1 cell adhesion...

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Identifiers

PMID: 22648184
DOI: 10.1038/jhg.2012.54
PMCID: PMC3503526

Genes

RET
HOXB5
ASCL1
PROK1
PROKR1

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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