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Article

Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.

Journal of internal medicine - 1 Jun 1998

Romeo G, Ceccherini I, Celli J, Priolo M, Betsos N, Bonardi G, Seri M, Yin L, Lerone M, Jasonni V, Martucciello G

Abstract excerpt

In a few patients with Hirschsprung disease (HSCR) and no clinical symptoms of multiple endocrine neoplasia type 2 (MEN-2A) or medullary thyroid carcinoma (MTC), missense mutations in the cysteine residues 609 and 620 of the Ret gene have been identified. In several pedigrees with either MEN-2A or familial MTC (FMTC) a documented germline mutation in cysteine 618 or 620 follows the segregation of the disease...

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Identifiers

PMID: 9681852
DOI: 10.1046/j.1365-2796.1998.00332.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.PMID 9681852Read ↗

Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.Semantic proximity Read ↗

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.Semantic proximity Read ↗

The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.Semantic proximity Read ↗

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogeneSemantic proximity Read ↗

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

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.Semantic proximity Read ↗

Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds.Semantic proximity Read ↗

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].Semantic proximity Read ↗

Multiple endocrine neoplasia type 2B and Hirschsprung's disease.Semantic proximity Read ↗

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

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

Co‐segregation of MEN2 and Hirschsprung's disease: The same mutation of <i>RET</i> with both gain and loss‐of‐function?Semantic proximity Read ↗

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