Fig. 3 | Journal of Human Genetics

Fig. 3

From: Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing

Fig. 3

MRI images of seven patients. Row 1 and row 2 are axial T2-weighted images, showing diffuse hypomyelination in cerebral white matter in all seven patients and atrophy of the basal ganglia in Pt1, Pt2, and Pt3. Pt1 also demonstrated an abnormal signal in the putamen and caudate nucleus. Raw 3 are midsagittal T1-weighted or T2-weighted images, showing atrophy of cerebellum in Pt1 and Pt6. Six patients were diagnosed with HLD6 (Pt1, Pt2, Pt3), HLD7 (Pt4), HLD11 (Pt5, Pt6), and SOX10 related disorder (Pt7), respectively. Y years, M months

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