Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome
Laura M. McDonell(Children's Hospital of Eastern Ontario), Kym M. Boycott(Children's Hospital of Eastern Ontario), Déborah Morris-Rosendahl, Jeremy Schwartzentruber(McGill University and Génome Québec Innovation Centre), Jacek Majewski(McGill University), Tilman Polster(MACOM (United States)), John M. Graham(Cedars-Sinai Medical Center), Janet Marcadier(University of Ottawa), Dennis E. Bulman(University of Alberta), Christopher D. Smyser(Unknown), William B. Dobyns(University of Minnesota), Gyula Acsádi(Connecticut Children's Medical Center), Bertrand Isidor(Centre National de la Recherche Scientifique), Carol L. Clericuzio(Medical University of South Carolina), Michael T. Geraghty(University of Ottawa), Diana Alcantara(University of Sussex), Alex R. Paciorkowski(Seattle Children's Hospital), Leo J. Lee(University of Toronto), Mark O’Driscoll(Sussex County Community College), Melissa T. Carter(Agricultural Research Institute of Ontario), Ghayda Mirzaa(University of Washington), John Woulfe(University of Ottawa), Soma Das(University of Chicago), Simon Williams(Princess Margaret Hospital for Children), Chandree L. Beaulieu(University of Ottawa), Anne Halbert(Princess Margaret Hospital for Children), Marcia Willing(Washington University in St. Louis), Brendan J. Frey(University of Toronto), Albert David, Sharron Townshend(King Edward Memorial Hospital)
Cited by 116
Related Papers
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas
|Acta Neuropathologica|2012|1k
Longitudinal Analysis of Neural Network Development in Preterm Infants
|Cerebral Cortex|2010|819
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
|The American Journal of Human Genetics|2004|760