| Accession |
PRJCA011482 |
| Title |
Prenatal Diagnosis of Walker Warburg Syndrome due to Compound Mutations in the B3GALNT2 Gene |
| Relevance |
Medical |
| Data types |
clinical data
|
| Organisms |
Homo
|
| 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. |
| Sample scope |
clinical data |
| Release date |
2022-08-27 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 35338537
|
|
|
|
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Key Research and Development Program of Zhejiang Province
|
Key Research and Development Program of Zhejiang Province
|
2019C03025
|
Key Research and Development Program of Zhejiang Province
|
|
|
| Submitter |
Minyue
Dong (dongmy@zju.edu.cn)
|
| Organization |
Women's hospital, School of Medicine, Zhejiang University |
| Submission date |
2022-08-27 |
