Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report
A structural abnormality or dysfunction of podocytes is the major cause of nephrotic syndrome (NS). The TBC1D8B protein interacts with nephrin, a podocyte slit diaphragm protein, regulates vesicle transport, and functions in the pathogenesis of NS. We report a novel potentially pathogenic variant in...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | article |
| Language: | EN |
| Published: |
Frontiers Media S.A.
2021
|
| Subjects: | |
| Online Access: | https://doaj.org/article/b8542dbe626f481ca307a2b15a7ac6a6 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|