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1. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

Author

Bakrania, P., Robinson, D.O., Bunyan, D.J., Salt, A., Martin, A., Crolla, J.A., Wyatt, A., Fielder, A., Ainsworth, J., Moore, A., Read, S., Uddin, J., Laws, D., Pascuel-Salcedo, D., Ayuso, C., Allen, L., Collin, J.R.O., and Ragge, N.K.

Subjects
Anophthalmos -- Genetic aspects, Anophthalmos -- Reports, Chromosome deletion -- Reports, Phenotype -- Reports, DNA binding proteins -- Genetic aspects, Health
Published
2007

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