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Article

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

Journal of pediatric surgery - 1 Jan 2008

Fialkowski Elizabeth A, DeBenedetti Mary K, Moley Jeffrey F, Bachrach Bert

Abstract excerpt

BACKGROUND: Multiple endocrine neoplasia 2A (MEN 2A) is a genetic syndrome manifesting as medullary thyroid carcinoma (MTC), hyperparathyroidism, and pheochromocytoma. Multiple endocrine neoplasia 2A results from mutations in the RET proto-oncogene. Hirschsprung disease (HSCR) is a rare manifestation of MEN 2A and has been described in known MEN 2A families. METHODS: Here we describe 2 MEN 2A families that were...

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Source

Identifiers

PMID: 18206480
DOI: 10.1016/j.jpedsurg.2007.09.043

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.PMID 18206480Read ↗

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