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Family pedigree and clinical features of the proband. The (a) pedigree indicates that Family II-1 had a spontaneous heterozygous mutation (SOX10 c.246delC), which is marked black. Family I-1 only carried the mutation of the SLC26A4 gene. (b) The iris heterochromia in both eyes of the proband, which are blue. a, b, and c indicate the distance between the inner canthi, pupils, and outer canthi. WT: wild type.
