ArticleCureus2025
Expanding the Phenotype: A Case Report of a Novel Alanyl-tRNA Synthetase 2 (AARS2) Homozygous Mutation in a 17-Month-Old Child.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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2 authors.
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Abstract
Early developmental delay and progressive neurological symptoms are red flags when evaluating infants in neurology clinics. Early assessment and management are essential to improve outcomes, with genetic testing being a cornerstone. Even if initial genetic results were not suggestive, revisiting the reported variant and comparing it to the newly published reports of different phenotypes helps establish the clinical diagnosis, as the authors report in this case of a 17-month-old child who presented with global developmental delay and hypotonia and was found to have Alanyl-tRNA Synthetase 2 (
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