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Article

Questioning the pathogenic role of the pTyr791Phe mutation of the RET proto-oncogene: Insight from a case report.

Annales d'endocrinologie - 1 Dec 2015

Mavromati Maria, Amsallem Myriam, Jublanc Christel, Bruckert Eric, Leenhardt Laurence, Girerd Xavier

Abstract excerpt

UNLABELLED: The pTyr791Phe mutation of the RET proto-oncogene is associated with a low penetrance of medullar thyroid carcinoma (MTC). Thus, there is a lack in guidelines on management of these patients presenting without a thyroid disease. CLINICAL CASE: A 27-year-old woman presented with a history of severe hypertension, paroxysmal tachycardia, diaphoresis and headaches. Twenty-four-hour urinary norepinephrine...

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Identifiers

PMID: 26639185
DOI: 10.1016/j.ando.2015.10.007

Genes

RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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