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Article

Parent-of-origin effects in multiple endocrine neoplasia type 2B.

American journal of human genetics - 1 Dec 1994

Carlson K M, Bracamontes J, Jackson C E, Clark R, Lacroix A, Wells S A, Goodfellow P J

Abstract excerpt

Multiple endocrine neoplasia type 2B (MEN 2B) is characterized by medullary thyroid carcinoma, pheochromocytomas, mucosal neuromas, ganglioneuromas, and skeletal and ophthalmic abnormalities. It is observed as both inherited and sporadic disease, with an estimated 50% of cases arising de novo. A single point mutation in the catalytic core region of the receptor tyrosine kinase, RET, has been observed in germ-line...

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Identifiers

PMID: 7977365
PMCID: PMC1918453

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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Parent-of-origin effects in multiple endocrine neoplasia type 2B.PMID 7977365Read ↗

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Presence of the 918 mutation in the RET proto-oncogene in a Mexican patient with multiple endocrine neoplasia type 2B.Semantic proximity Read ↗

Prevalence and genetics of “de novo” MEN2 syndromesSemantic proximity Read ↗

Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.Semantic proximity Read ↗

Germline mutation of RET codon 883 in two cases of de novo MEN 2BSemantic proximity Read ↗

A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.Semantic proximity Read ↗

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