Heterozygous truncating variants in BICC1 are a novel cause of autosomal-dominant tubulointerstitial kidney disease
Naomi S Eylath, Kendrah Kidd, Piper Alyea-Herman, Julia Meyersiek et autres
Abstract Introduction Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is characterized by chronic kidney disease (CKD) with an average age of end-stage renal disease (ESRD) of approximately 45 years, bland urinary sediment, the absence of proteinuria and autosomal dominant inheritance. While several causative genes …
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