Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report

• 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: article
• Mynediad Ar-lein: Connect to this object online.

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...