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Effect of Hydrocortisone on Angiotensinogen (AGT) Mutation–Causing Autosomal Recessive Renal Tubular Dysgenesis
We has identified a founder homozygous E3_E4 del: 2870 bp deletion + 9 bp insertion in AGT gene encoding angiotensinogen responsible for autosomal recessive renal tubular dysgenesis (ARRTD) with nearly-fatal outcome. High-dose hydrocortisone therapy successfully rescued one patient with an increased...
Autores principales: | Tseng, Min-Hua, Huang, Shih-Ming, Konrad, Martin, Huang, Jing-Long, Shaw, Steven W., Tian, Ya-Chung, Chueh, Ho-Yen, Fan, Wen-Lang, Wu, Tai-Wei, Ding, Jhao-Jhuang, Chiang, Ming-Chou, Lin, Shih-Hua |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065467/ https://www.ncbi.nlm.nih.gov/pubmed/33916187 http://dx.doi.org/10.3390/cells10040782 |
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