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Article

Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma.

Genetics research - 1 May 2020

Laitman Yael, Tzur Shay, Attai Ruben, Tirosh Amit, Friedman Eitan

Abstract excerpt

Pheochromocytoma (PCC) is a rare, mostly benign tumour of the adrenal medulla. Hereditary PCC accounts for ~35% of cases and has been associated with germline mutations in several cancer susceptibility genes (e.g., KIF1B, SDHB, VHL, SDHD, RET). We performed whole-exome sequencing in a family with four PCC-affected patients in two consecutive generations and identified a potential novel candidate pathogenic...

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Identifiers

PMID: 32354376
DOI: 10.1017/S0016672320000038
PMCID: PMC7214532

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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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