Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic disorder and can lead to end-stage kidney failure. A monogenic cause can be identified in ~12% of affected individual...

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Detalles Bibliográficos
Autores principales: Riedhammer, Korbinian M., Ćomić, Jasmina, Tasic, Velibor, Putnik, Jovana, Abazi-Emini, Nora, Paripovic, Aleksandra, Stajic, Natasa, Meitinger, Thomas, Nushi-Stavileci, Valbona, Berutti, Riccardo, Braunisch, Matthias C., Hoefele, Julia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10250376/
https://www.ncbi.nlm.nih.gov/pubmed/36922632
http://dx.doi.org/10.1038/s41431-023-01331-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10250376/
https://www.ncbi.nlm.nih.gov/pubmed/36922632
http://dx.doi.org/10.1038/s41431-023-01331-x

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