Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report

Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development. The TTC21B gene, which encodes the retrograde intraflagellar transport protein IFT139...

Full description

Saved in:
Bibliographic Details
Main Authors: Martin Bezdíčka, Dana Zemková, Sylva Skálová, Eva Hovorková, Miroslav Podhola, Jan Burkert, Jakub Zieg
Format: article
Language:EN
Published: Frontiers Media S.A. 2021
Subjects:
Online Access:https://doaj.org/article/76c93d0cacbe44bea1cd417d0d3b4726
Tags: Add Tag
No Tags, Be the first to tag this record!