Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review

Background: Ciliopathies are rare diseases causing renal and extrarenal manifestations. Here, we report the case of a ciliopathy induced by a homozygous pathogenic variant in the TTC21B gene. Case Description: A 47-year-old patient started hemodialysis for chronic kidney disease (CKD) of unknown ori...

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Detalles Bibliográficos
Autores principales: Gambino, Giuseppe, Catalano, Concetta, Marangoni, Martina, Geers, Caroline, Moine, Alain Le, Boon, Nathalie, Smits, Guillaume, Ghisdal, Lidia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702958/
https://www.ncbi.nlm.nih.gov/pubmed/34957165
http://dx.doi.org/10.3389/fmed.2021.795216

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