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Article

A rare missense variant in RET exon 8 in a Portuguese family with atypical multiple endocrine neoplasia type 2A.

Hormones (Athens, Greece) - 1 Jul 2016

Martins Ana Filipa, Martins João Martin, do Vale Sónia, Dias Teresa, Silveira Catarina, da Silva Inês Rodrigues, Carmo-Fonseca Maria

Abstract excerpt

BACKGROUND AND OBJECTIVE: Multiple Endocrine Neoplasia type 2 (MEN2) is a rare genetic disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism. MEN2 is an autosomal dominant syndrome caused by mutations in the RET proto-oncogene. In the vast majority of patients, the mutations are localized in exons 10, 11 and 13-15 of the RET gene. Rare variants located in...

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Identifiers

PMID: 27838608
DOI: 10.14310/horm.2002.1691

Genes

RET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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