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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ling Hou (Awdur), Lu Yin (Awdur), Yubin Wu (Awdur), Chengguang Zhao (Awdur), Yue Du (Awdur)
Fformat: Llyfr
Cyhoeddwyd: Frontiers Media S.A., 2021-11-01T00:00:00Z.
Pynciau:
Mynediad Ar-lein:Connect to this object online.
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Rhyngrwyd

Connect to this object online.

3rd Floor Main Library

Manylion daliadau o 3rd Floor Main Library
Rhif Galw: A1234.567
Copi 1 Ar gael