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Article

Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease.

Surgery - 1 Apr 1995

Borst M J, VanCamp J M, Peacock M L, Decker R A

Abstract excerpt

BACKGROUND: The clinical association of multiple endocrine neoplasia type 2A (MEN 2A) and Hirschsprung's disease (HD), although rare, has been previously observed. Recently, germline mutations in the RET proto-oncogene, a transmembrane receptor with tyrosine kinase activity, have been detected in patients with familial HD. RET is also the predisposition gene for the inherited cancer syndrome MEN 2A. METHODS: We...

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Source

Identifiers

PMID: 7716719
DOI: 10.1016/s0039-6060(05)80057-1

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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Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease.PMID 7716719Read ↗

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RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease.Semantic proximity Read ↗

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Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.Semantic proximity Read ↗

The RET proto-oncogene: a challenge to our understanding of disease pathogenesis.Semantic proximity Read ↗

RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.Semantic proximity Read ↗

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RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.Semantic proximity Read ↗

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