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  1. Novel Genetic Cause for Absence of Kidneys

Novel Genetic Cause for Absence of Kidneys

Veronica Arora et al.
October 05, 2020

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 as a novel cause for this lethal condition. These findings were published in the Journal of the American Society of Nephrology, the leading journal for kidney research.