NL-OMON53284招募中不适用
Collection of biomaterial for iPSCs to study the molecular mechanisms underlying Witteveen-Kolk syndrome - WitKoS molecular study
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 3
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
- 18 至 64（—）
入选标准
- •- Written informed consent to participate in this study
- •- Having a (likely) pathogenic variant in SIN3A
- •- Clinical diagnosis of WitKoS as judged by the principal investigator
- •- Age >= 18 years
排除标准
- •- Subjects who do not meet the inclusion criteria
- •- Subjects with another genetic variant (e.g. copy number variation, single
- •nucleotide variant) that most likely contributes to the neurodevelopmental
研究者
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