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Molecular data from the patient and the healthy parents. Note (a) the heterozygous mutation c.2735G>A (P.Cys912Tyr) in exon 6 of the TRPS1 gene on the electropherogram and NGS data of the patient, (b) the familial mutation was not detected in the healthy father, (c) in the healthy mother, the c.2735 G>A (P.Cys912Tyr) somatic mutation can be seen on the electropherogram and NGS data—note the mosaicism estimated at ∼10%.
