TCTR20220706007招募中不适用
Association between cutaneous manifestations and mutation gene by whole exome sequencing technique among neurofibromatosis type 1 patients
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 40
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
- 6 Months 至 N/A (No limit)（—）
- 性别
- All
入选标准
- •Clinical diagnosis based on presence of two of the following:
- •-Six or more cafe-au-lait macules over 5 mm in diameter in prepubertal individuals and over 15mm in greatest diameter in postpubertal individuals.
- •-Two or more neurofibromas of any type or one plexiform neurofibroma.
- •Two or more Lisch nodules (iris hamartomas).
- •-Freckling in the axillary or inguinal regions.
- •-Optic glioma.
- •-A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis.
- •-First-degree relative (parent, sibling, or offspring) with NF1 by the above criteria
排除标准
- •1. Mosaic NF1 (localized NF1)
- •2. involuntary participants
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