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Genetic analysis of the family. (a) The pedigree of the family. Slash indicates a deceased individual. Sanger sequencing chromatographs of TUBB8 in available family members revealing a heterozygous mutation in the patient and her elder sister, as indicated by red arrows. (b) Sequence alignment of the TUBB8 protein and its homologs from five primate species revealing conservation of the affected amino acid, as indicated by the blue frame
