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跨蛋白质编码区域的ZEB2基因致病变体和对临床表现的影响:一篇综述

Waheeda A Hossain1, Caroline St Peter1, Scott Lovell2

  • 1Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA.

International journal of molecular sciences
|February 13, 2025
PubMed
概括

莫瓦特-威尔逊综合征 (MWS) 与指E-Box-Binding Homeobox 2 (ZEB2) 基因变异有关. 异位素8缺陷与胃肠道问题有关,而其他异位素变异影响面部特征和发育.

关键词:
莫瓦特威尔逊综合症 莫瓦特威尔逊综合症ZEB2基因变体的变体基因型表型关系的关系多系统器官开发多系统器官开发神经发育障碍是一种神经发育障碍.蛋白质域和非域区域.

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