ArticleFrontiers in pediatrics2026
A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Iterative genetic testing identifiesJournal of human immunity · 2026Article
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10 authors.
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Abstract
Background: Aicardi-Goutières syndrome type 5 (AGS5) is a rare pediatric-onset monogenic interferonopathy caused by loss-of-function variants in the Case presentation: We report a consanguineous Pakistani family with two siblings affected by AGS5. The affected individuals (9-year-old female and 7-year-old male) presented early-infantile-onset neurodevelopmental delay, microcephaly, dysarthria, bilateral lower-limb muscular atrophy, and mild planovalgus deformity. They never attained independent ambulation and had only rudimentary speech. Notably, neuroimaging findings, spasticity, seizures, and aggressive behavior were absent. Whole-exome sequencing identified a homozygous canonical splice donor site variant in Conclusion: This report expands the mutational and phenotypic spectrum of
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