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Fig. 2 | BMC Medical Genomics

Fig. 2

From: 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 loss

Fig. 2

Genetic 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 uncle

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