Publication
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype
Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Alice Goldenberg, Thomas Husson, Dominique Campion, Klaske D. Lichtenbelt, Koen van Gassen, Michelle Steinraths, Jennifer Rice, Elizabeth R. Roeder, Rebecca O. Littlejohn, Myriam Srour, Guillaume Sebire, Andrea Accogli, Delphine Héron, Solveig Heide, Caroline Nava, Christel Depienne, Austin Larson, Dmitriy Niyazov, Meron Azage, George Hoganson, Jennifer Burton, Eric T. Rush, Janda L. Jenkins, Carol J. Saunders, Isabelle Thiffault, Joseph T. Alaimo, Julie Fleischer, Daniel Groepper, Karen W. Gripp, Wendy K. Chung
American Journal of Medical Genetics Part A, February 2020, Wiley
DOI: 10.1002/ajmg.a.61505