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Segregation of CFAP300 mutations. Patients I-1 and II-1 were homozygous for the mutation while parents were heterozygous. (A). Patient I-1 family with carrier parents and one carrier brother and two unaffected siblings. The mutation site is indicated in carrier and unaffected siblings and in patient I-1. (B). Patient II-1 family with carrier parents and brother. (C). Sanger sequencing result for patient III-1.
