Missense mutations disrupting the ATPase domain of CHD3 cause a novel neurodevelopmental syndrome with intellectual disability, macrocephaly and impaired speech and language
Year: 2017
Type: article
Authors: Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Laurence Faivre, Julien Thévenon, Mirna Assoum, Lance H. Rodan, C. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie Steeves, Inderneel Sahai, Constance T.R.M. Stumpel, Patricia G. Wheeler, Marcia Willing, Emerich S. Fiala, Amit Kochhar, William T. Gibson, Ana S.A. Cohen, Ruky Agbahovbe, Julia Rankin, Ipswich Anderson, Steve Skinner, Raymond J. Louie, Hannah Warren, Alexandra Afenjar, Raymond Lewandowski, Jennifer Propst, Murim Choi, Jong‐Hee Chae, Susan Price, M. Cho, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Mariëlle E.M. Swinkels, Eva H. Brilstra, Glen R. Monroe, Gijs van Haaften, Ruth Newbury‐Ecob, Lawrence D. Shriberg, Pelagia Derizioti, Tjitske Kleefstra, Han G. Brunner, Motoki Takaku, John D. Roberts, Robert M. Petrovich, Shinichiro Machida, Hitoshi Kurumizaka, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
Institution: Max Planck Society
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W2977631295