Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Aug 16, 2022; 10(23): 8271-8276
Published online Aug 16, 2022. doi: 10.12998/wjcc.v10.i23.8271
Figure 1
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Figure 1 Pedigree and sanger sequencing validation of homozygous mutation c. 473T>C, p.F158S of TTPA gene in this pedigree. Clear square: Male; Clear circle: Female; Black circle: Index patient.
Figure 2
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Figure 2 Brain magnetic resonance images show relatively normal brainstem and cerebellum of the index patient (II:1).
Figure 3
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Figure 3 Evaluation of the mutation p. Arg301Gln is highly conserved among species.