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...

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Detalles Bibliográficos
Autores principales: Bezdíčka, Martin, Zemková, Dana, Skálová, Sylva, Hovorková, Eva, Podhola, Miroslav, Burkert, Jan, Zieg, Jakub
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/PMC8603824/
https://www.ncbi.nlm.nih.gov/pubmed/34805047
http://dx.doi.org/10.3389/fped.2021.752878

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603824/
https://www.ncbi.nlm.nih.gov/pubmed/34805047
http://dx.doi.org/10.3389/fped.2021.752878

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