Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.
Veronica AroraSuliman KhanAyman W. El-HattabRatna Dua PuriMaria Eugenia RochaRijad MerdzanicOmid PakniaChristian BeetzArndt RolfsAida M Bertoli-AvellaPeter BauerIshwar C VermaPublished in: Journal of the American Society of Nephrology : JASN (2020)
These findings strongly support the causal role of GFRA1-inactivating variants for an autosomal recessive, nonsyndromic form of BRA. This knowledge will enable early genetic diagnosis and better genetic counseling for families with BRA.