Associated Papers
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
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Helman G et al.
Pediatric Neurology, 2021
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