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(a) Family pedigree. (b) Brain CT showing multiple calcifications in the bilateral frontal lobe, parietal lobe, temporal lobe, occipital lobe, basal ganglia, and cerebellum. (c) Sanger sequencing showing a CASR heterozygous mutation (c.416T > C) in the proband, and wild-type sequence in his parents and (d) Conservation of the 139th amino acid among different species.
