Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis

Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular injury and commonly results in kidney failure. We reported a case of 4-year-old Chinese boy presented with severe anemia, kidney, and liver dysfunction. Whole exome sequencing (WES) was performed to identify th...

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Veröffentlicht in:	Nephron (2015) 2023-09, Vol.147 (9), p.572-582
Hauptverfasser:	Zhang, Xinjie, Zhi, Xiufang, Wang, Xin, Dong, Yan, Shu, Jianbo, Wang, Wenhong, Cai, Chunquan
Format:	Artikel
Sprache:	eng
Schlagworte:	Experimental Nephrology and Genetics: Case Study of Genetic Interest
Online-Zugang:	Volltext
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