Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

David R. Adams, Hongjie Yuan, Todd Holyoak, Katrina H. Arajs, Parvin Hakimi, Thomas C. Markello, Lynne A. Wolfe, Thierry Vilboux, Barbara K. Burton, Karin Fuentes Fajardo, George Grahame, Conisha Holloman, Murat Sincan, Ann C.M. Smith, Gordon A. Wells, Yan Huang, Hugo Vega, James P. Snyder, Gretchen A. Golas, Cynthia J. TifftCornelius F. Boerkoel, Richard W. Hanson, Stephen F. Traynelis, Douglas S. Kerr, William A. Gahl

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