Associated Papers
SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant.
AlBathi A et al.
Radiology Case Reports, 2025
In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population.
Gowda VK et al.
Journal of Family Medicine and Primary Care, 2024
SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.
AlHargan A et al.
Human Genome Variation, 2023
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