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Article

The genetics of steroid-resistant nephrotic syndrome in children

6 Nov 2020

Abstract excerpt

Steroid-resistant nephrotic syndrome (SRNS) is caused by a defective expression of podocyte-specific proteins resulting from genetic defects in ∼30% of cases [1]. Identification of such genetic cause in children is of utmost importance for genetic counselling, to avoid ineffective and potentially harmful therapies [2] and to start early suitable treatment in rare instances such as ubiquinone Coenzyme Q10 (COQ10)...

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PMID: 33180925
DOI: 10.1093/ndt/gfaa221

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