ArticleTranslational pediatrics2026
Alström syndrome in a Chinese girl: a case report and literature review.
Article in Translational pediatrics, 2026. 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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7 authors.
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Abstract
Background: Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder caused by homozygous or compound heterozygous mutations in the Case Description: We report a case of ALMS in a Chinese female patient featuring nystagmus, visual impairment, diabetes mellitus, hepatosplenomegaly, mixed hearing loss, ovarian pedicle torsion, and acanthosis nigricans. Comprehensive clinical data-including anthropometric, laboratory, and imaging findings-were collected. Whole-exome sequencing identified biallelic pathogenic variants in the Conclusions: We identified a novel likely pathogenic variant in the
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