Anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies
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- Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A et al. Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways. Am J Hum Genet. 2008 February 8; 82(2):304-319.