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Kalman B et al. – The role of chromosomal structural variations in the pathogenesis of neurologic disorders is increasingly recognized. Available data may only capture a small subgroup of conditions related to these recently discovered genetic variations. The ongoing genome studies are expected to reveal structural chromosomal alterations as an underlying cause of many as yet poorly understood common diseases. New challenges include defining chromosomal break points, evaluating biologic consequences of gene dosage effect, and using molecular genetics for personalized therapeutic intervention.


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