Associated Papers
A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.
Saleh MA et al.
International Journal of Molecular Sciences, 2025
A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy.
Mallack EJ et al.
American Journal of Medical Genetics. Part A, 2024
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