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Article

Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation.

Journal of pediatric surgery - 1 Feb 2010

Moore Sam W, Zaahl Monique

Abstract excerpt

INTRODUCTION: Hirschsprung disease (HSCR) is associated with the later development of multiple endocrine neoplasia (MEN2), because RET gene variations are associated with both conditions. Specifically, HSCR-MEN2 cosegregation mostly relates to the cysteine-rich area at the RET-620 (the "Janus gene"). AIM: The aim of this study was to explore the clinical and genetic associations of HSCR-MEN2 in a cohort of HSCR...

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Source

Identifiers

PMID: 20152359
DOI: 10.1016/j.jpedsurg.2009.10.080

Genes

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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