Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A
Renske Oegema(Utrecht University), Grazia M.S. Mancini(Erasmus MC), Rachel Schot(Erasmus MC), Annemieke J.M.H. Verkerk(Erasmus University Rotterdam), I. van der Laar, Maarten H. Lequin(McDonald's (United States)), Pino J. Poddighe, William B. Dobyns(University of Washington), L. Dubbel, Peter J. van der Spek(Erasmus MC), Belinda Dumee(Erasmus MC), M.W. Wessels, Annelies de Klein(Erasmus MC), I.F.M. de Coo(Radboud University Nijmegen), Marie‐Claire Y. de Wit(Erasmus MC), Bert Eussen, Hannie Douben(Erasmus MC)
Cited by 48
Related Papers
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
|Nature Genetics|2012|752
Diagnostic criteria for Walker‐Warburg syndrome
|American Journal of Medical Genetics|1989|448