Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1A.

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Fig. 1A.T2-weighted magnetic resonance imaging of Galloway-Mowat syndrome with novel heterozygous WDR4 variants in a Korean boy at the age of 3 years (A-C) and 9 years (D-F). (A) Cerebellar atrophy with mild edema was noted on axial view. (B) An axial image showed no significant signal intensity at both putamen. (C) A sagittal view showed cerebellar atrophy and cerebral atrophy with thinning of corpus callosum. (D) Cerebellar atrophy became more prominent compared to (E) An axial image showed newly developed hyperintensity at both putamen. (F) A sagittal view showed progressed cerebellar atrophy and thinning of corpus callosum.
Journal of Genetic Medicine 2020;17:97-101
© 2020 Korean Society of Medical Genetics and Genomics