Fig. 2From: Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing lossGenetic analysis of the family. a Sanger DNA sequencing chromatogram demonstrates the heterozygosity for a SALL1 mutation (c.1428_1429insT, p. K478QfsX38) in the proband and her father. b Sanger DNA sequencing chromatogram demonstrates the homozygosity for a PTPRQ mutation (c.1057_1057delC, p. L353SfsX8) in the proband’ mother and uncleBack to article page