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相关概念视频

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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相关实验视频

Updated: May 3, 2026

Pooled shRNA Screen for Reactivation of MeCP2 on the Inactive X Chromosome
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没有发育回归的MECP2-关联雷特综合征-一个病例系列.

Alexandra Morgan1,2, Alice Pham1, Sydni Beeley1

  • 1Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, NC, USA.

Journal of child neurology
|March 12, 2026
PubMed
概括
此摘要是机器生成的。

基因检测显示,MECP2相关的雷特综合征 (RS) 在四个女孩的全球发育迟缓. 这些病例显示了RS的非典型表现,强调了发展障碍的广泛基因组测序.

关键词:
遗传学 遗传学 遗传学 是一个神经发育的神经发育发作 发作 这些

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科学领域:

  • 遗传学 是一个遗传学.
  • 儿科 儿科 儿科
  • 神经学 神经学

背景情况:

  • 神经发育障碍需要持续的临床表型扩展.
  • 基因测试的进步对于阐明新的临床标准至关重要.
  • 全球发育迟缓是专门诊所常见的转诊原因.

研究的目的:

  • 报告一系列儿童患者的全球发育迟缓病例.
  • 突出MECP2-关联雷特综合征 (RS) 的意外遗传诊断.
  • 为了证明RS的临床表现的扩大.

主要方法:

  • 追溯案例系列分析.
  • 对四名女性儿科患者的临床数据的审查.
  • 对MECP2突变的遗传测试结果的分析.

主要成果:

  • 四名女性儿科患者被诊断出患有MECP2相关的雷特综合征 (RS).
  • 在基因检测之前,没有一个患者符合RS的确定的临床诊断标准.
  • 患者呈现全球发育迟缓,没有典型的发展或回归.

结论:

  • 广泛的基因组测序对于全球发育迟缓的患者来说很重要.
  • 雷特综合征的非典型和轻度呈现越来越被认可.
  • 对RS临床谱的理解随着基因测试标准化而演变.