ArticleAME case reports2026
Multilocus pathogenic variants in
Article in AME case reports, 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Multilocus pathogenic variants are increasingly recognized in neonates with complex phenotypes and have important implications for diagnosis and clinical management. Reporting such cases helps expand the phenotypic spectrum and improve clinical understanding of blended genetic disorders. Case Description: We describe a rare case of a male neonate born at 38+5 weeks of gestation with a birth weight of 1.73 kg, consistent with small-for-gestational-age status. The infant presented with perinatal asphyxia requiring 37 minutes of resuscitation, followed by hypotonia, poor feeding, a weak cry, and reduced responsiveness. Laboratory investigations revealed anemia, hyperbilirubinemia, and Conclusions: This case highlights the potential for blended phenotypes caused by multilocus variation and underscores the diagnostic value of trio-WES in neonates with unexplained multisystem involvement. Long-term follow-up and multidisciplinary management remain essential for such patients.
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