Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome
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Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations. Most patients have a similar hemizygo... ...