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Article

Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.

Endocrinology and metabolism (Seoul, Korea) - 1 Dec 2020

Seo Soo Hyun, Kim Jung Hee, Kim Man Jin, Cho Sung Im, Kim Su Jin, Kang Hyein, Shin Chan Soo, Park Sung Sup, Lee Kyu Eun, Seong Moon-Woo

Abstract excerpt

BACKGROUND: Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline variants in all patients. In this study, we used whole exome sequencing to identify novel causative variants associated with PPGL to improve the detection of rare genetic variants in our...

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Identifiers

PMID: 33397043
DOI: 10.3803/EnM.2020.756
PMCID: PMC7803589

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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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