Prenatal Diagnosis of Apert Syndrome due to A De novo FGFR2 Mutation at the Second Trimester
| Title | Prenatal Diagnosis of Apert Syndrome due to A De novo FGFR2 Mutation at the Second Trimester |
|---|---|
| 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 Clinical information |
| Data Accessibility | Controlled-access |
| BioProject | PRJCA011484 |
| Release Date | 2023-12-31 |
| Submitter | Minyue Dong (dongmy@zju.edu.cn) |
| Organization | Women's hospital, School of Medicine, Zhejiang University |
| Submission Date | 2022-09-12 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX001818-01 | Prenatal Diagnosis of Apert Syndrome due to A De novo FGFR2 Mutation at the Second Trimester | 1 | Other Type of Clinical information | 924.4 KB | zip | 0 | Controlled |