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Updated: Sep 19, 2025

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盖洛威-莫瓦特综合征的遗传学和表型异质性

Limin Huang1, Yanfei Wang2, Yingying Zhang3

  • 1Department of Nephrology, Children's Hospital, National clinical research center for child health, Zhejiang University School of Medicine, 3333 Binsheng Road, Hangzhou, China.

Cell communication and signaling : CCS
|June 18, 2025
PubMed
概括

加洛威-莫瓦特综合征 (GAMOS) 是一种罕见的遗传疾病,表现为早期发病的瘤综合征和小头症. 本综述详细介绍了其复杂的遗传学,异质的表型和诊断挑战,包括脏表现.

关键词:
盖洛威莫瓦特综合征 盖洛威莫瓦特综合征凯奥普斯 (KEOPS) 综合体是一个复杂的系统.现象型异质性的异质性这是WDR73的WDR73.

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