Article
The expanding phenotypic spectra of kidney diseases: insights from genetic studies.
Nature reviews. Nephrology - 1 Aug 2016
Stokman Marijn F, Renkema Kirsten Y, Giles Rachel H, Schaefer Franz, Knoers Nine V A M, van Eerde Albertien M
Abstract excerpt
Next-generation sequencing (NGS) has led to the identification of previously unrecognized phenotypes associated with classic kidney disease genes. In addition to improving diagnostics for genetically heterogeneous diseases and enabling a faster rate of gene discovery, NGS has enabled an expansion and redefinition of nephrogenetic disease categories. Findings from these studies raise the question of whether...
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