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Article

Genotype and clinical phenotype characteristics of MAX germline mutation-associated pheochromocytoma/paraganglioma syndrome.

Frontiers in endocrinology - 1 Jan 2024

Lian Bijun, Lu Jun, Fang Xudong, Zhang Yiming, Wang Wei, He Yi, Yu Hongyuan, Li Feiping, Wang Junwei, Chen Weiying, Qi Xiaoping

Abstract excerpt

Objective: The aim of this study was to investigate the genotypic and clinical phenotypic characteristics of MAX germline mutation-associated pheochromocytoma (PCC) and paraganglioma (PGL). Methods: We retrospectively analyzed the family investigation data and clinical genetic characteristics of six individuals from three independent families with PCC carrying MAX germline mutations from December 2005 to March...

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Identifiers

PMID: 39279998
DOI: 10.3389/fendo.2024.1442691
PMCID: PMC11392793

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