GDF6 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.
den Hollander et al. BMC Genetics 2010 11:102 doi:10.1186/1471-2156-11-102