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Updated: Mar 7, 2026

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与CTNNB1相关的疾病:来自法国队列的临床和放射学贡献

Eline Chauvet-Piat1,2, Marie-Céline François-Heude1, Gaël Manes3

  • 1Department of Pediatric Neurology, Montpellier University Hospital, Montpellier, France.

Frontiers in neurology
|March 6, 2026
PubMed
概括

CTNNB1基因中的致病变体与脑有关,导致发育迟缓,运动问题如高血压和步态问题以及行为障碍. 这项研究扩大了对CTNNB1相关综合征及其复杂的神经特征的理解.

关键词:
在 CTNNB1 找脑性麻 脑性麻 是一种排泄性玻璃红蛋白病变 (vitreoretinopathy) 是一种表性的疾病.智力障碍 智力障碍是一种智力障碍.微头症是一个微头症.运动障碍 运动障碍

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