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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hou, Ling, Yin, Lu, Wu, Yubin, Zhao, Chengguang, Du, Yue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8632055/
https://www.ncbi.nlm.nih.gov/pubmed/34858901
http://dx.doi.org/10.3389/fped.2021.732512

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8632055/
https://www.ncbi.nlm.nih.gov/pubmed/34858901
http://dx.doi.org/10.3389/fped.2021.732512

Ejemplares similares