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Fig. 1 | Human Genomics

Fig. 1

From: ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Fig. 1

Brain MRI sequences of P1 (1A–D), P2 (2A–D), and P3 (3A–D) without Gad at the age of 18 months. Posterior periventricular and deep white matter signal changes in axial T2-weighted and FLAIR images (1A, 1C–2A, 2C–3A, 3C white arrows), deepening of the Sylvain fissures (1A), mild supratentorial atrophy and exvacue ventriculomegaly (IA, 1C, 2A), near-normal appearance of axial and sagittal T1-weighted imaged (1B–2B–3B, 2D), and thinning of the corpus callosum (1D, 3D) were the most prominent imaging findings. In addition, delayed myelination in subcortical white matter is seen at the age of 18 months (3A)

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Human Genomics

ISSN: 1479-7364