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Article

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

Clinics (Sao Paulo, Brazil) - 1 Jan 2012

Quedas Elisangela P S, Longuini Viviane C, Sekiya Tomoko, Coutinho Flavia L, Toledo Sergio P A, Tannuri Uenis, Toledo Rodrigo A

Abstract excerpt

Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mutations in RET have...

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Source

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Identifiers

PMID: 22584707
DOI: 10.6061/clinics/2012(sup01)11
PMCID: PMC3328835

Genes

RET

Variants

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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