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Article

Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium.

Journal of internal medicine - 1 Oct 1995

Mulligan L M, Marsh D J, Robinson B G, Schuffenecker I, Zedenius J, Lips C J, Gagel R F, Takai S I, Noll W W, Fink M

Abstract excerpt

The International RET Mutation Consortium was first convened as part of the Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Sweden, in an attempt to analyse the relationship of RET mutation and disease phenotype in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN 2) syndromes. Out of 361 families studied, 41% had MEN 2A, 17.7% MEN 2B, 6.4% FMTC and the remaining...

Topics

Carcinoma, Medullary
Female
Genotype
Humans
Male
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2b
Phenotype
Point Mutation
Proto-Oncogenes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thyroid Neoplasms

Source

Identifiers

PMID: 7595170
DOI: 10.1111/j.1365-2796.1995.tb01208.x

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7595170-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium.PMID 7595170Read ↗

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Genotype/phenotype correlations in multiple endocrine neoplasia type 2.Semantic proximity Read ↗

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