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Phenotype of pheochromocytoma and paraganglioma by germline mutation: a Korean multicenter study.

Endocrine-related cancer - 1 May 2025

Park Min Jeong, Park Seung Shin, Lee Bon Hyang, Jang Jin Sun, Kim Won Woong, Kim Su Jin, Lee Yu-Mi, Lee Kyu Eun, Sung Tae-Yon, Seong Moon-Woo, Lee Woochang, Koh Jung-Min, Kim Jung Hee, Lee Seung Hun

Abstract excerpt

Recent advances in genetic testing have challenged the traditional genotype-phenotype correlation in pheochromocytomas and paragangliomas (PPGL). We aimed to characterize the genotype-phenotype correlations in PPGL in a large Korean cohort and compare our findings with those from other countries. We retrospectively analyzed 627 patients with PPGL from two centers who underwent genetic testing for germline...

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PMID: 40063012
DOI: 10.1530/ERC-24-0269

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