Association of the missense variant p.<scp>Arg203Trp</scp> in <i><scp>PACS1</scp></i> as a cause of intellectual disability and seizures

David Stern(Icahn School of Medicine at Mount Sinai), Wendy K. Chung(Columbia University Irving Medical Center), M.T. Cho, K.H. Kim(Lurie Children's Hospital), Nelly Jouayed Oundjian(Valley Hospital), Anne Slavotinek(Cincinnati Children's Hospital Medical Center), Ingrid M. Wentzensen, Brooke Spangler(Children's Hospital of The King's Daughters), Heather M. McLaughlin, Kyle Retterer(Geisinger Health System), Matthew A. Deardorff(Children's Hospital of Philadelphia), Sarah Hopkins(Children's Hospital of Philadelphia), Rashmi Chikarmane, Emma Bedoukian(Vienna Biocenter), S. Schrier Vergano(Children's Hospital of The King's Daughters), Rebecca Willaert, Allyn McConkie‐Rosell(Duke Medical Center), María J. Guillen Sacoto, Berivan Baskin(Universität Hamburg), Marie McDonald(Duke Medical Center), Fran Kendall(Roswell Park Comprehensive Cancer Center), Barbara K. Burton(Women & Children's Hospital of Buffalo), Nandini Chandy(New York Medical College), David Kronn(New York Medical College), Dianalee McKnight
Clinical Genetics
January 23, 2017
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