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Updated: Sep 14, 2025

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在CTNNB1神经发育综合征中的基因型,功能型和表型特征

Nina Žakelj1, David Gosar1, Špela Miroševič2

  • 1Department of Pediatric Neurology, University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1525 Ljubljana, Slovenia.

HGG advances
|July 20, 2025
PubMed
概括

由CTNNB1基因变异引起的CTNNB1神经发育综合征表现出不同的临床特征. 误解变异与较温和的表型有关,为向治疗提供了洞察力.

关键词:
CTNNB1神经发育综合征没有信号通路.自闭症自闭症是什么发育延迟的发展延迟.基因型 基因型 基因型基因型-表型相关性相关性微头症是一个微头症.现象型 现象型 是一种现象型.这是一种β-catenin.

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