| 项目编号 |
PRJCA014664 |
| 项目标题 |
whole genome sequencing on microtia |
| 涉及领域 |
Evolution |
| 数据类型 |
Whole genome sequencing
Variation
Raw sequence reads
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
Craniofacial microsomia (CFM also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures derived from the first and second branchial arches, can occur unilaterally and include ear dysplasia, microtia, preauricular tags and pits, facial asymmetry and other malformations. The inheritance pattern is controversial, and the molecular etiology of this syndrome is largely unknown. Here, we performed whole genome sequencing on the craniofacial microsomia patients to identify the potential causal genes. |
| 样品范围 |
Multiisolate |
| 发布日期 |
2025-02-01 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 40234029
|
Common cis -regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia
|
Genome Research
|
10.1101/gr.280047.124
|
2025
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| National Natural Science Foundation of China (NSFC)
|
General Program
|
82171844
|
|
|
|
| 提交者 |
Yong-Biao
Zhang (zhangyongbiao@gmail.com)
|
| 提交单位 |
Beihang University |
| 提交日期 |
2023-02-01 |
