Article
Clinical characteristics and prognosis of SDHD pathogenic variant carriers: a systematic review and meta-analysis.
Journal of medical genetics - 23 Jul 2026
Lian Xinquan, Shen Liping, Song Jiayin, Pang Mengqi, Zhong Yunmeng, Zhang Han, Xing Yadong, Tung Tao-Hsin, Shen Bo
Abstract excerpt
BACKGROUND: Germline pathogenic variants (PVs) of succinate dehydrogenase subunit D (SDHD) are major genetic causes of pheochromocytomas and paragangliomas. Existing studies have reported inconsistent findings and lack a comprehensive synthesis regarding penetrance, multifocality and metastatic risk in carriers of SDHD PVs. OBJECTIVE: To systematically assess age-specific penetrance (in all carriers) and the...
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