Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Intellectual Disability and SUPT16H[original query] |
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Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. European journal of medical genetics 2016 Aug . Breckpot Jeroen, Vercruyssen Marieke, Weyts Eddy, Vandevoort Sean, D'Haenens Greet, Van Buggenhout Griet, Leempoels Lore, Brischoux-Boucher Elise, Van Maldergem Lionel, Renieri Alessandra, Mencarelli Maria Antonietta, D'Angelo Carla, Mericq Veronica, Hoffer Mariette J, Tauber Maithé, Castiglioni Claudia, Brison Nathalie, Vermeesch Joris R, Danckaerts Marina, Sienaert Pascal, Devriendt Koenraad, Vogels Anni |
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. Journal of medical genetics 2020 1 57 (7): 461-465. Bina Roya, Matalon Dena, Fregeau Brieana, Tarsitano Jacqueline Joani, Aukrust Ingvild, Houge Gunnar, Bend Renee, Warren Hannah, Stevenson Roger E, Stuurman Kyra Eva, Barkovich A James, Sherr Elliott |
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- Page last updated:Sep 18, 2023
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