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Figure 1 | BMC Medical Genetics

Figure 1

From: Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

Figure 1

Mutations in the coding sequence of anophthalmia genes in ANOP1 and ANOP2 patients. Figure 1A. Chromatogram showing c.542delC in SOX2 in patient 09-122, predicted as c.539A > D. Figure 1B. Chromatogram showing c.313C > T in OTX2, predicting p.Gln105X in patient 792-508. Figure 1C. Chromatogram showing c. 720C > A in FOXE3, predicting p.Cys240X in patient 792-563.

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BMC Medical Genetics

ISSN: 1471-2350

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