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Updated: Jun 21, 2025

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从发育迟缓,听力异常和神经系统异常患者的BRF1基因中识别新型变异

Hongwei Yin¹, Yonglin Yu¹, Yingying Shen²

¹Department of Rehabilitation, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Zhejiang, China.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

|July 15, 2024

概括

与BRF1基因变异相关的Cerebellofaciodental综合征可以导致发育延迟和听力损失. 康复可能不有效,这表明需要替代治疗受影响的儿童.

科学领域:

遗传学是一个遗传学.
神经学神经学
发展生物学发展生物学

背景情况:

脑易牙综合征表现为智力障碍和大脑异常.
该综合征的临床谱现在包括听力障碍和内耳形.

关键词:

这就是BRF1的原因.发育延迟的发展延迟.变种变种变种变种变种整体外基因组测序的测序

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