CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene

M. C J Jongmans, R. J. Admiraal, K. P. Van Der Donk, L. E L M Vissers, A. F. Baas, L. Kapusta, J. M. Van Hagen, D. Donnai, T. J. De Ravel, J. A. Veltman, A. Geurts Van Kessel, B. B A De Vries, H. G. Brunner, L. H. Hoefsloot, C. M A Van Ravenswaaij

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    Biochemistry, Genetics and Molecular Biology