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

Year: 2014
Type: article
Study design: Case Report
DOI: 10.1016/j.ymgme.2014.04.001
Authors: 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. Tifft, Cornelius F. Boerkoel, Richard W. Hanson, Stephen F. Traynelis, Douglas S. Kerr, William A. Gahl
Institutions: National Institutes of Health, National Human Genome Research Institute, Office of the Director, Emory University, University of Waterloo, Case Western Reserve University, Northwestern University, Lurie Children's Hospital, University Hospitals Cleveland Medical Center, University of Rochester Medicine, University of Rochester, Stellenbosch University
Language: English
Subfield: Genetics
Open Access status: green
Funders: MetLife Foundation, National Institutes of Health, U.S. Public Health Service, Natural Sciences and Engineering Research Council of Canada, National Institute of Neurological Disorders and Stroke, National Center for Research Resources
Awards: G1171762958, G1629497905, G2230881918, G3177504541, G5216254687, G5294359063, G601745226, G679228813, G8476909084
OpenAlex ID: W2015656754
FWCI: 3.762
Cites: 53
Cited by: 65
Related to: 10