ArticleDiagnostics (Basel, Switzerland)2026
Diagnostic Pitfall in Genomic Era: Discordant
Article in Diagnostics (Basel, Switzerland), 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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4 authors.
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Abstract
Next-generation sequencing has transformed the diagnostic approach to rare neurogenetic disorders. However, interpretation of molecular findings remains challenging when identified variants are discordant with the clinical phenotype. We report the case of a preschool-aged girl presenting with seizures, infantile-onset macrocephaly, and the characteristic magnetic resonance imaging (MRI) pattern of megalencephalic leukoencephalopathy with subcortical cysts (MLC). Whole-exome sequencing identified no pathogenic variants in the currently recognized MLC-associated genes. Instead, it detected a heterozygous
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