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Fig. 1 | BMC Medical Genomics

Fig. 1

From: A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

Fig. 1

Family pedigree and audiologic output of the proband (II-6). a Pedigree and segregation analysis of the PDZD7 gene mutation c.251T>C: p.I84T in a family with ARNSHL. Both patients (II-2 and II-6) are homozygote mutants and their parents are heterozygote. Sanger sequencing of four normal siblings of the patients revealed that individuals II-3 and II-4 are homozygous wild type whereas other two siblings (II-1 and II-5) are heterozygote. b Audiograms of the affected proband. The left chart is for right ear and the chart in right is for left ear. Audiograms were obtained using pure tone audiometry with air conduction from frequencies 250 to 8000 Hz

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