NL-OMON48020招募中不适用
ncovering molecular mechanisms and neuronal pathways involved in SETBP1 disorder using human cell culture models - The SETBP1 molecular study
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 10
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 2 至 99（—）
入选标准
- •The subjects must carry a de novo pathogenic variant in the SETBP1 gene, where properties and functions of the encoded protein are likely to be affected; and display neurodevelopmental phenotypes
排除标准
- •Subjects with another (possibly) pathogenic variant (CNV, SNV) that might contribute to the neurodevelopmental phenotype
研究者
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