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Nephrotic syndrome

Genetic testing in steroid-resistant nephrotic syndrome

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Genetic forms of steroid-resistant nephrotic syndrome are characterized by an unremitting clinical course, resistance to treatment and a favorable outcome after transplantation. The recognition of these diseases is essential, but difficult, owing to genetic and phenotypic heterogeneity. Such difficulties have led to the proposal of a systematic step-wise approach for mutational screening.

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  1. INSERM U983, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Hôpital Necker-Enfants Malades, Paris, France

    Marie Claire Gubler

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  1. Marie Claire Gubler
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Gubler, M. Genetic testing in steroid-resistant nephrotic syndrome. Nat Rev Nephrol 7, 430–431 (2011). https://doi.org/10.1038/nrneph.2011.75

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