Expanding the Spectrum of CONDSIAS (2024)

Doctors reported on a young woman living with CONDSIAS who showed some new and unexpected symptoms. This study helps expand the “map” of what CONDSIAS can look like, so doctors can recognize and diagnose it earlier. It also suggests possible future treatments, like using PARP inhibitors.

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Novel Imaging and Clinical Features of CONDSIAS (2020)

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Clinical & Genetic Study in Two Brothers (2024)