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The novel de novo mosaic mutation in PCDH19 gene in proband confirmed by Sanger sequence. The variant was identified in proband but absent in parents. The proportion of mosaic mutation (c.840C>A, p. Tyr280*) in PCDH19 gene was 27.9% in, buccal mucosal cells, 48.3% in exfoliated cells in urine and 42.4% in peripheral blood of proband.
