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

• Main Authors: Martin Bezdíčka (Author), Dana Zemková (Author), Sylva Skálová (Author), Eva Hovorková (Author), Miroslav Podhola (Author), Jan Burkert (Author), Jakub Zieg (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...