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The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution

PURPOSE: Inherited kidney diseases are among the leading causes of kidney failure in children, resulting in increased mortality, high healthcare costs and need for organ transplantation. Next-generation sequencing technologies can help in the diagnosis of rare monogenic conditions, allowing for opti...

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Detalles Bibliográficos
Autores principales: Vaisitti, Tiziana, Bracciamà, Valeria, Faini, Angelo Corso, Brach Del Prever, Giulia Margherita, Callegari, Martina, Kalantari, Silvia, Mioli, Fiorenza, Romeo, Carmelo Maria, Luca, Maria, Camilla, Roberta, Mattozzi, Francesca, Gianoglio, Bruno, Peruzzi, Licia, Amoroso, Antonio, Deaglio, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9926680/
https://www.ncbi.nlm.nih.gov/pubmed/36782285
http://dx.doi.org/10.1186/s40246-023-00456-w

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