Article
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Molecular genetics and metabolism - 1 Nov 2014
Adams David R, Yuan Hongjie, Holyoak Todd, Arajs Katrina H, Hakimi Parvin, Markello Thomas C, Wolfe Lynne A, Vilboux Thierry, Burton Barbara K, Fajardo Karin Fuentes, Grahame George, Holloman Conisha, Sincan Murat, Smith Ann C M, Wells Gordon A, Huang Yan, Vega Hugo, Snyder James P, Golas Gretchen A, Tifft Cynthia J, Boerkoel Cornelius F, Hanson Richard W, Traynelis Stephen F, Kerr Douglas S, Gahl William A
Abstract excerpt
The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously unassociated with disease. However, we hypothesized that this could also co-occur with multiple genetic disorders. Demonstrating a complex syndrome caused by multiple...
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