Figure 7From: Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomaliesGDF6 analysis in patients with microphthalmia, anophthalmia and coloboma. (A) Two different heterozygous amino acid changes, p.Ala249Glu and p.Ala319Thr, were detected in four unrelated individuals. (B) The sequence of the heterozygous p.Ala249Glu variant in patient 792-535. (C) The affected half-sib of patient 792-535 does not carry the p.Ala249Glu variant, while it was detected in the unaffected father.Back to article page