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Article

A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.

European journal of endocrinology - 1 Jan 2011

Burnichon Nelly, Lepoutre-Lussey Charlotte, Laffaire Julien, Gadessaud Noémie, Molinié Vincent, Hernigou Anne, Plouin Pierre-François, Jeunemaitre Xavier, Favier Judith, Gimenez-Roqueplo Anne-Paule

Abstract excerpt

OBJECTIVE: In this report, we describe a new patient with unexplained familial bilateral pheochromocytoma. Following the recent description of TMEM127 as a new pheochromocytoma susceptibility gene, the aim of this study was to test the hypothesis of a causative TMEM127 gene mutation in this patient. DESIGN: Pheochromocytoma susceptibility genes were analyzed in germline DNA and losses of heterozygosity (LOH)...

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Share to Adrenal Gland Neoplasms
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20923864
DOI: 10.1530/EJE-10-0758

Genes

SDHB
MTOR
RET

Variants

Provenance

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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A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.PMID 20923864Read ↗

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