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Figure 2 | BMC Medical Genetics

Figure 2

From: A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

Figure 2

Brain MRI of affected individuals from Families 1 and 2. Left: midline parasaggital T1-weighted images showing absent inferior vermis, and hypoplastic inferior-cerebellum (arrows). Middle: coronal T1-weighted images showing neocortical pachygyria and mega cisterna magna (*). Right: Axial T2-weighted images showing typical square-shaped midbrain-hindbrain junction morphology in all patients (arrows).

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