Article
[Genetic analysis of a child with atypical Hemolytic uremic syndrome and nephrotic-range proteinuria].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2023
Wang Dahai, Shan Chunrong, Gao Tingting, Liu Jia, Zhang Ranran, Zhang Qiuye, Chang Hong, Lin Yi
Abstract excerpt
OBJECTIVE: To explore the clinical characteristics and genetic etiology for a child with atypical Hemolytic uremic syndrome (aHUS) in conjunct with nephrotic level proteinuria. METHODS: A child patient who had visited the Affiliated Hospital of Qingdao University on June 25, 2020 was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out for the...
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