A case report of NPHP1 deletion in Chinese twins with nephronophthisis

Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life...

Source: BMC Medical Genetics - April 19, 2020 Category: Genetics & Stem Cells Authors: Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao and Bo Zhang Tags: Case report Source Type: research