Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
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K. F. Fajardo | J. Snyder | D. Kerr | D. Adams | M. Sincan | C. Boerkoel | C. Tifft | W. Gahl | T. Markello | L. Wolfe | B. Burton | G. Golas | T. Vilboux | S. Traynelis | Hongjie Yuan | G. Grahame | Y. Huang | R. Hanson | T. Holyoak | Ann C M Smith | G. Wells | P. Hakimi | Gretchen A. Golas | Conisha M. Holloman | H. Vega | Katrina H Arajs | Parvin Hakimi