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GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder

Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y. Huang, Ana P. G. Silva, Hane Lee, Emilie D. Douine, María Gabriela Otero, Andrew Choi, Katheryn Grand, Ingrid P. Taff, Mauricio R. Delgado, M.J. Hajianpour, Andrea Seeley, Luis Rohena, Hilary J. Vernon, Karen W. Gripp, Samantha A. Schrier Vergano, Sonal Mahida, Sakkubai Naidu, Ana Berta Sousa, Karen E. Wain, Thomas D. Challman, Geoffrey Beek, Donald Basel, Judith D. Ranells, Rosemarie Smith, Roman Yusupov, Mary‐Louise Freckmann, Lisa Ohden, Laura Davis‐Keppen, David Chitayat, James J. Dowling, Richard S. Finkel, Andrew Dauber, Rebecca C. Spillmann, Loren D.M. Peña, Kay Metcalfe, Miranda Splitt, Katherine Lachlan, Shane McKee, Jane A. Hurst, David Fitzpatrick, Jenny Morton, Helen Cox, Sunita Venkateswaran, Juan I. Young, Eric D. Marsh, Stanley F. Nelson, Julián A. Martínez-Agosto, John M. Graham, Usha Kini, Joel P. Mackay, Tyler Mark Pierson

2020Genetics in Medicine34 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationHypotoniaGeneticsBiologyFrameshift mutationPhenotypeIntellectual disabilityMacrocephalyNonsenseGeneGenetics and Neurodevelopmental DisordersCongenital heart defects researchGenomics and Rare Diseases
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder | Litcius