Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life

INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause of chronic kidney disease (CKD) and the need for kidney replacement therapy (KRT) in children. Although more than 60 genes are known to cause CAKUT if mutated, genetic etiology is detected, on averag...

Descripción completa

Detalles Bibliográficos
Autores principales: Werfel, Lina, Martens, Helge, Hennies, Imke, Gjerstad, Ann Christin, Fröde, Kerstin, Altarescu, Gheona, Banerjee, Sushmita, Valenzuela Palafoll, Irene, Geffers, Robert, Kirschstein, Martin, Christians, Anne, Bjerre, Anna, Haffner, Dieter, Weber, Ruthild G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Translational Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10658255/
https://www.ncbi.nlm.nih.gov/pubmed/38025229
http://dx.doi.org/10.1016/j.ekir.2023.08.008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10658255/
https://www.ncbi.nlm.nih.gov/pubmed/38025229
http://dx.doi.org/10.1016/j.ekir.2023.08.008

Ejemplares similares