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

Human Genomics

Research

Carmelo Maria Romeo¹  Giulia Margherita Brach Del Prever¹  Martina Callegari¹  Maria Luca¹  Valeria Bracciam๠ Silvia Kalantari¹  Fiorenza Mioli¹  Angelo Corso Faini¹  Antonio Amoroso²  Silvia Deaglio²  Tiziana Vaisitti²  Roberta Camilla³  Francesca Mattozzi³  Bruno Gianoglio³  Licia Peruzzi³ 

[1] Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”, Via Santena 19, 10126, Turin, Italy;Immunogenetics and Transplant Biology Service, University Hospital “Città della Salute e della Scienza di Torino”, Via Santena 19, 10126, Turin, Italy;Department of Medical Sciences, University of Turin, Via Nizza 52, 10126, Turin, Italy;Pediatric Nephrology Dialysis and Transplantation, University Hospital “Città della Salute e della Scienza di Torino”, Turin, Italy;

关键词: Clinical exome sequencing;    Next-generation sequencing;    Kidney diseases;    Genetic testing;    Pediatric cohort;   

DOI  :  10.1186/s40246-023-00456-w

 received in 2022-11-07, accepted in 2023-02-03,  发布年份 2023

来源: Springer

【 授权许可】

CC BY   
© The Author(s) 2023

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