| Title |
Prenatal diagnosis of Apert syndrome at the second trimester based on ultrasound findings and whole exome sequencing: a case report |
| 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. |
| Organism |
Homo |
| Data Type |
Other Type of Genomic Data |
| Data Accessibility |
Controlled-access |
| BioProject |
PRJCA013685 |
| Release Date |
2024-12-31 |
| Submitter |
Minyue Dong (dongmy@zju.edu.cn) |
| Organization |
Women's hospital, School of Medicine, Zhejiang University |
| Submission Date |
2022-12-07 |