Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome

M. Chiara Manzini, Dimira E. Tambunan, R. Sean Hill, Tim W. Yu, Thomas M. Maynard, Erin L. Heinzen, Kevin V. Shianna, Christine R. Stevens, Jennifer N. Partlow, Brenda J. Barry, Jacqueline Rodriguez, Vandana A. Gupta, Abdel Karim Al-Qudah, Wafaa M. Eyaid, Jan M. Friedman, Mustafa A. Salih, Robin Clark, Isabella Moroni, Marina Mora, Alan H. BeggsStacey B. Gabriel, Christopher A. Walsh

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