Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Authors: Irene A. Aligianis, Colin A. Johnson, Paul Gissen, Dongrong Chen, Daniel J. Hampshire, Katrin Hoffmann, Esther N. Maina, Neil V. Morgan, Louise Tee, Jenny Morton, John R. Ainsworth, Denise Horn, Elisabeth Rosser, Trevor Cole, Irene Stolte‐Dijkstra, Karen Fieggen, Jill Clayton‐Smith, André Mégarbané, Julian Hamilton‐Shield, Ruth Newbury‐Ecob, William B. Dobyns, John M. Graham, Klaus Kjaer, Mette Warburg, Jacqueline Bond, Richard C. Trembath, Laura W. Harris, Yoshimi Takai, Stefan Mundlos, David Tannahill, Crislyn Woods, Eamonn R. Maher - Nature Genetics 2005 cited by 226