ArticleAmerican journal of translational research2026
Three pediatric patients with dual rare genetic diagnoses: genetic and clinical findings.
Article in American journal of translational research, 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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Abstract
In certain clinical scenarios, a single diagnosis may be insufficient or even inadequate to fully explain complex or atypical phenotypes. Herein, we present three pediatric cases diagnosed with dual rare genetic disorders and analyze their medical histories and diagnostic trajectories. A total of nine gene mutations were detected, among which seven were novel, including c.[791T>C];[695G>A] in
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