Associated Papers
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.
Wong KM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.
Takahashi T et al.
Brain & Development, 2022
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