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Abdulrahman N. Aljaber

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Review Sep 2026

Clinical and immunological variability in RNU4ATAC-associated disorders: a case report and review of immunological features

Background: RNU4ATAC encodes a critical component of the minor spliceosome, and biallelic variants are associated with a spectrum of syndromic disorders, including Roifman syndrome, microcephalic osteodysplastic primordial dwarfism type I, and Lowry–Wood syndrome. These conditions demonstrate marked clinical and immuno...

Hadeel Alsulami, Abdulrahman N. Aljaber, Amal M. Alshaibi et al. · 0 citations

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