Article
[Clinical phenotype analysis of 6 cases of TTC21B gene related nephronophthisis].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Aug 2022
Zhang J, Sun L, Kuang X Y, Kang Y L, Hao S, Feng D, Niu X L, Huang W Y
Abstract excerpt
Objective: To analyze the clinical characteristics of 6 children with TTC21B-related nephronophthisis to provide reference for early clinical diagnosis. Methods: The general condition, clinical manifestations, laboratory tests and other clinical data of 6 children from 4 families diagnosed with nephronophthisis by genetic testing in Shanghai Children's Hospital from January 2015 to December 2020 were analyzed...
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