Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups

Genetic kidney disease comprises a diverse group of disorders. These can roughly be divided in the phenotype groups congenital anomalies of the kidney and urinary tract, ciliopathies, glomerulopathies, stone disorders, tubulointerstitial kidney disease, and tubulopathies. Many etiologies can lead to...

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Detalles Bibliográficos
Autores principales: Claus, Laura R., Snoek, Rozemarijn, Knoers, Nine V. A. M., van Eerde, Albertien M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Review Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9828643/
https://www.ncbi.nlm.nih.gov/pubmed/36161467
http://dx.doi.org/10.1002/ajmg.c.31995

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9828643/
https://www.ncbi.nlm.nih.gov/pubmed/36161467
http://dx.doi.org/10.1002/ajmg.c.31995

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