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Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

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Figure

Figure 1 Facial appearance of the patients. Note the deeply-set eyes, large mouth with full lips and widely spaced teeth, and prognathism.
Figure 2 Cranial MRI showing diffuse cerebral atrophy with a relatively normal sized corpus callosum, relatively large lateralventricules and normal sized brain stem and cerebellum.
Figure 4 Array-CGH analysis presents the deletion on 1p34.2 and 1q44. Schematic representation showing the known genes with thedeleted region

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