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Article

Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.

Pediatric surgery international - 1 Feb 2012

Vaclavikova Eliska, Kavalcova Lucie, Skaba Richard, Dvorakova Sarka, Macokova Pavla, Rouskova Blanka, Bendlova Bela

Abstract excerpt

PURPOSE: Inactivating germline mutations in the RET proto-oncogene are the major genetic cause of Hirschsprung's disease (HD). In some cases, HD can be associated with medullary thyroid carcinoma (MTC) that is commonly caused by activating RET mutations. METHODS: The retrospective and prospective genetic analyses of 157 patients with HD operated on between December 1979 and June 2011 were carried out. DNA was...

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Source

Identifiers

PMID: 21986619
DOI: 10.1007/s00383-011-2993-2

Genes

RET

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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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