A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II
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. ,, and indicate the distance between the inner canthi, pupils, and outer canthi. WT: wild type.
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