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. 2020;10(2):1–4. doi: 10.13107/jocr.2020.v10.i02.1670

Figure 1.

Figure 1

Three-generation pedigree shows a typical X-linked inheritance of spondyloepiphyseal tarda in this family. The horizontal bar (-) indicates that these cases have been examined by the authors, the asterisk (*) indicates that molecular diagnosis was possible in these cases. Patients III-6, III-7, and III-10 were shown to be hemizygous for the mutation; individuals II-6, II-9, and II-11 were shown to be heterozygous for the mutation; normal brother III-12 was shown to be mutation negative.