Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Titel:
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Auteur:
Santiago-Sim, Teresa Burrage, Lindsay C. Ebstein, Frédéric Tokita, Mari J. Miller, Marcus Bi, Weimin Braxton, Alicia A. Rosenfeld, Jill A. Shahrour, Maher Lehmann, Andrea Cogné, Benjamin Küry, Sébastien Besnard, Thomas Isidor, Bertrand Bézieau, Stéphane Hazart, Isabelle Nagakura, Honey Immken, LaDonna L. Littlejohn, Rebecca O. Roeder, Elizabeth Kara, Bulent Hardies, Katia Weckhuysen, Sarah May, Patrick Lemke, Johannes R. Elpeleg, Orly Abu-Libdeh, Bassam James, Kiely N. Silhavy, Jennifer L. Issa, Mahmoud Y. Zaki, Maha S. Gleeson, Joseph G. Seavitt, John R. Dickinson, Mary E. Ljungberg, M. Cecilia Wells, Sara Johnson, Sara J. Teboul, Lydia Eng, Christine M. Yang, Yaping Kloetzel, Peter-Michael Heaney, Jason D. Walkiewicz, Magdalena A.