Phenotype, genotype, and clinical outcome of Taiwanese with congenital nephrotic syndrome

Min-Hua Tseng,Shih-Hua Lin,Wen-Lang Fan, Ta-Wei Wu,Shuan-Pei Lin,Jhao-Jhuang Ding,I-Jung Tsai,Jeng-Daw Tsai

Journal of the Formosan Medical Association = Taiwan yi zhi（2023）

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摘要

The majority of patients with CNS in Taiwan were caused by OSGEP followed by WT1 mutation. R247Q is the hotspot mutation of OSGEP in Taiwan. CNS patients in Taiwan suffer from significant morbidity and mortality.

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关键词

Genetic association studies,Nephrosis,Congenital,Outcome assessment,Health care

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