Article
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2020
Shieh Christine, Jones Natasha, Vanle Brigitte, Au Margaret, Huang Alden Y, Silva Ana P G, Lee Hane, Douine Emilie D, Otero Maria G, Choi Andrew, Grand Katheryn, Taff Ingrid P, Delgado Mauricio R, Hajianpour M J, Seeley Andrea, Rohena Luis, Vernon Hilary, Gripp Karen W, Vergano Samantha A, Mahida Sonal, Naidu Sakkubai, Sousa Ana Berta, Wain Karen E, Challman Thomas D, Beek Geoffrey, Basel Donald, Ranells Judith, Smith Rosemarie, Yusupov Roman, Freckmann Mary-Louise, Ohden Lisa, Davis-Keppen Laura, Chitayat David, Dowling James J, Finkel Richard, Dauber Andrew, Spillmann Rebecca, Pena Loren D M, Metcalfe Kay, Splitt Miranda, Lachlan Katherine, McKee Shane A, Hurst Jane, Fitzpatrick David R, Morton Jenny E V, Cox Helen, Venkateswaran Sunita, Young Juan I, Marsh Eric D, Nelson Stanley F, Martinez Julian A, Graham John M, Kini Usha, Mackay Joel P, Pierson Tyler Mark
Abstract excerpt
PURPOSE: Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND). METHODS: Fifty GAND subjects were evaluated to determine consistent genotypic/phenotypic features. Immunoprecipitation assays utilizing in vitro transcription-translation products were used to evaluate GATAD2B missense variants' ability to interact with binding partners within the nucleosome...
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