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Article

Molecular Analysis of the<i>ret</i>and<i>GDNF</i>Genes in a Family with Multiple Endocrine Neoplasia Type 2A and Hirschsprung Disease<sup>1</sup>

1 Sept 1998

Abstract excerpt

The clinical association between multiple endocrine neoplasia type 2 (MEN2) and Hirschsprung disease (HSCR) is infrequent. Germline mutations of the ret protooncogene are the underlying cause of the MEN2 syndromes and a proportion of cases of HSCR. In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the...

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Identifiers

PMID: 9745455
DOI: 10.1210/jcem.83.9.5093

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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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Molecular Analysis of the<i>ret</i>and<i>GDNF</i>Genes in a Family with Multiple Endocrine Neoplasia Type 2A and Hirschsprung Disease<sup>1</sup>PMID 9745455Read ↗

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Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease.Semantic proximity Read ↗

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

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

Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung 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 ↗

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patientSemantic proximity Read ↗

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