PMC10411728_01
Magnetic resonance images (MRIs) of the patient's brain. (A) Sagittal T2-weighted brain MRI. (B) Axial T1-weighted brain MRI.
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F1
Brain magnetic resonance imaging (MRI) unveiled cerebellar atrophy with the enlargement of cerebellar sulci (Figure 1).
Sanger sequencing validation of the ATM variants of all family members.
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F2
The compound heterozygous variants, c.4195dup and c.6006 + 1G>T, were inherited from the unaffected father and mother, respectively (Figure 2).