[태그:] Developmental Delay
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Genetic Mechanisms of GDD with Normal MRI: WES Strategies to End the Diagnostic Odyssey
🎯 Key Highlights 1. The Paradox of a ‘Normal’ MRI: Molecular Pathogenesis Beyond Structure In the clinical evaluation of GDD/ID, an ‘unremarkable’ MRI report should paradoxically heighten the suspicion of underlying molecular-level genetic defects. 2. Why WES is the ‘First-tier’ Choice for MRI-Normal Patients Traditional diagnostic protocols—moving from MRI to metabolic screens, then to Chromosomal…