Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

doi:10.1016/j.kint.2017.10.016

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Article

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Kidney international - 1 Apr 2018

Ashton Emma J, Legrand Anne, Benoit Valerie, Roncelin Isabelle, Venisse Annabelle, Zennaro Maria-Christina, Jeunemaitre Xavier, Iancu Daniela, Van't Hoff William G, Walsh Stephen B, Godefroid Nathalie, Rotthier Annelies, Del Favero Jurgen, Devuyst Olivier, Schaefer Franz, Jenkins Lucy A, Kleta Robert, Dahan Karin, Vargas-Poussou Rosa, Bockenhauer Detlef

Abstract excerpt

The clinical diagnosis of inherited renal tubulopathies can be challenging as they are rare and characterized by significant phenotypic variability. Advances in sequencing technologies facilitate the establishment of a molecular diagnosis. Therefore, we determined the diagnostic yield of a next generation sequencing panel assessing relevant disease genes in children followed through three national networks with a...

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PMID: 29398133
DOI: 10.1016/j.kint.2017.10.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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