与WDR26相关的Skraban-Deardorff综合征:临床,遗传和病理机制的见解

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Updated: Sep 11, 2025

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Xueqin Lin1, Hui Chen2, Youfeng Zhou3

  • 1Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.

European journal of medical research
|August 19, 2025
PubMed
概括

在WDR26中发生的突变会导致斯克拉班-迪尔多夫综合征 (SKDEAS). 这项研究揭示了新的WDR26变体,并表明误解突变加速了蛋白质降解,从而导致SKDEAS的发病.

关键词:
这就是WDR2626的功能.细胞的增殖细胞的增殖.功能丧失 - 功能丧失.蛋白质体中的降解.斯克拉班 德多夫综合症

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