Autor: Inas Al-Younis
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Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report
BackgroundNeurodevelopmental disorders (NDDs) are genetically heterogeneous, and standard genomic testing frequently yields variants of uncertain significance (VUS) or misses cryptic structural variants. Episignature analysis, which detects disorder sp…