Article
A case report of NPHP1 deletion in Chinese twins with nephronophthisis.
BMC medical genetics - 19 Apr 2020
Chen Feng, Dai Limeng, Zhang Jun, Li Furong, Cheng Jinbo, Zhao Jinghong, Zhang Bo
Abstract excerpt
BACKGROUND: 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. As an inherited disorder with highly genetic heterogeneity and clinical presentations, NPHP still poses a challenging task for nephrologists without special training to make a well-judged...
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