| Accession |
PRJCA011484 |
| Title |
Prenatal Diagnosis of Apert Syndrome due to A De novo FGFR2 Mutation at the Second Trimester |
| Relevance |
Medical |
| Data types |
clinical data
|
| Organisms |
Homo
|
| Description |
Craniosynostosis is one of the symptoms of Apert syndrome which is largely attributed to the disruptions of the FGFR2 gene. The prenatal diagnosis of Apert syndrome typically depends on the ultrasound imaging at the late pregnancy, which is unfavorable for the early diagnosis. |
| Sample scope |
clinical data |
| Release date |
2023-01-20 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Key Research and Development Program of Zhejiang Province
|
Key Research and Development Program of Zhejiang Province
|
2019C03025
|
|
|
|
| Submitter |
Minyue
Dong (dongmy@zju.edu.cn)
|
| Organization |
Women's hospital, School of Medicine, Zhejiang University |
| Submission date |
2022-08-27 |
