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Pedigrees of Families 1–6 with a clinical diagnosis of SOD. (A–C) Pedigrees of genetically explained families with genotypes indicated for corresponding variants in SOX2 (Family 1), SHH (Family 2), and ARID1A (Family 3) and Sanger traces showing variants in each affected individual as well as absence in unaffected parent(s). (D–F) Pedigrees of genetically unexplained families. Filled symbols represent affected individuals; empty symbols represent unaffected individuals.
