Associated Papers
A de novo HK1 Variant in a Boy Fulfilling the Diagnostic Criteria for Tuberous Sclerosis Complex: Expanding the Phenotypic Spectrum of NEDVIBA.
Ariyasu D et al.
American Journal of Medical Genetics. Part A, 2025
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
Ng BG et al.
Genetics in Medicine Open, 2025
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB et al.
Neurology. Genetics, 2024
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.
Peretz RH et al.
American Journal of Medical Genetics. Part A, 2023
High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.
Kubota D et al.
Ophthalmic Genetics, 2020
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Okur V et al.
European Journal of Human Genetics : Ejhg, 2019
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