A 4.5-year-old boy presented with steroid-resistant nephrotic syndrome, cardiac defects (VSD), and neurological findings suggestive of Schimke immuno-osseous dysplasia (SIOD). He had a family history of a sibling with a cardiac anomaly who died at a young age. Genetic testing revealed a homozygous mutation in the SMARCAL1 gene. Brain MRI showed dif
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