Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome.
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 248
- 主要终点
- presence of sequence variation
研究概览
简要总结
The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.
详细描述
Goldenhar syndrome belongs to the heterogeneous spectrum of oculoauriculovertebral dysplasia. Several chromosomal abnormalities have been described associated with this spectrum, and furthermore mutations in different genes of development cause abnormalities of the jaw or facial asymmetries in human or mouse. To date, no gene has been identified as formally involved in the genesis of the OAVS, despite evidence of familial cases, mostly with autosomal dominant inheritance.
The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Spectrum of oculoauriculovertebral dysplasia minimal features include unilateral microtia and hemifacial microsomia
排除标准
- •Absence of minimal spectrum of oculoauriculovertebral dysplasia features, molecular anomaly identified, other diagnosis
结局指标
主要结局
presence of sequence variation
时间窗: At the screening
Identification of the first gene involved in Goldenhar syndrome
次要结局
未报告次要终点