PMC8060434_01
PMC8060434_02
Brain MRI at the age of 3 months. (a-c) represent T1,T2,T2-FLAIR weighted images of one section and (e-g) indicate T1,T2,T2-FLAIR weighted images of another section, respectively. (d,h) show T1 weighted images of the coronal plane and sagittal plane. The arrows point out the representing lesions in each picture.
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F1
MRI showed frontotemporal, parietal, and occipital lobes cystic encephalomalacia and bilateral basal ganglia atrophy (Figure 1).
(A) Sanger sequencing electropherograms showing compound heterozygous variants in MOCS3 (A showing c.1375C>T and B showing c.325C>G). (B) Pedigree chart of the family.
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F2
Whole-exome sequencing (WES) accompanied with Sanger sequencing validation was performed in the proband and her parents (Figure 2).