Phenotypic expansion in DDX3X -- a common cause of intellectual disability in females
Xia Wang, Jennifer Ellen Posey, Jill Anne Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna L. Immken, Jill M. Harris, Scott E. Hickey, Theresa Mihalic Mosher, Anne Michele Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, , Paolo M. Moretti
The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.
Annals of Clinical and Translational Neurology · Sep 15, 2018Peer-reviewedGenetics