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The de novo mutation at TGFBR2 exon 5. The sequence chromatograms show the heterozygous mutation in TGFBR2 (c.1142g > c) in the proband’s DNA (A). The arrow indicates the position of the missense mutation replacing Arg381 (cgg) with Pro (ccg). The parents of the case (B) show the normal TGFBR2 genotype (left, father; right, mother).
