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. 2013 Jul 22;8(7):e69026. doi: 10.1371/journal.pone.0069026

Figure 1. Somatic mosaicism demonstrated in an ISKS proband.

Figure 1

Case 14 presented with an osteosarcoma of the mandible at age 19yrs. HRM analysis of the peripheral blood DNA estimated that 20–25% of alleles were mutant. The mutation was detected in tumour DNA and found to be heterozygous, but was absent in multiple other non-tumour tissues of the mouth.