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Pedigree and PIKFYVE sequencing in a family with Fleck corneal dystrophy. A: Proband 1 is designated with an arrowhead. Filled symbols represent affected individuals, and question marks indicate individuals with undetermined affected status. B: Chromatograms demonstrate the presence of the c.3151dupA variant in proband 1 (individual II:2) and her affected sister (individual II:1); this variant was not present in the unaffected mother (individual I:1) and brother (individual II:3).
