Prenatal Diagnosis of Walker Warburg Syndrome due to Compound Mutations in the B3GALNT2 Gene
| Title | Prenatal Diagnosis of Walker Warburg Syndrome due to Compound Mutations in the B3GALNT2 Gene |
|---|---|
| Description | Congenital hydrocephalus is one of the symptoms of Walker Warburg Syndrome which is attributed to the disruptions of the genes, among which the B3GALNT2 gene are rarely reported. The diagnosis of the Walker Warburg Syndrome depends on the clinical manifestations and the whole-exome sequencing after birth, which is unfavorable for the early diagnosis. |
| Organism | Homo |
| Data Type | Other Type of Clinical information |
| Data Accessibility | Open-access |
| BioProject | PRJCA011482 |
| Release Date | 2024-09-27 |
| Submitter | Minyue Dong (dongmy@zju.edu.cn) |
| Organization | Women's hospital, School of Medicine, Zhejiang University |
| Submission Date | 2022-09-03 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX001755-01 | Prenatal Diagnosis of Walker Warburg Syndrome due to Compound Mutations in the B3GALNT2 Gene | 1 | Other Type of Clinical information | 4.6 MB | zip | 0 |