A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report

• 主要な著者: Jiajia Ni (著者), Yaju Zhu (著者), Fujun Lin (著者), Wenbin Guan (著者), Jing Jin (著者), Yufeng Li (著者), Guimei Guo (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

BackgroundDent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure.Case presentationHere we report one 11-year-old Chinese boy (proband) and...