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Sanlaville, D., Etchevers, H.C., Gonzales, M., Martinovic, J., Clément-Ziza, M., et al. (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. Journal of Medical Genetics, 43, 211-217. doi:10.1136/jmg.2005.036160

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