Skip to Main Content

Paper Details

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Am J Hum Genet
77
2017
ARX, ARX-, COE, Collier/Olf, EBF, EBF3, EBF3 homologs, Early B cell factor 3, Syndromic Neurodevelopmental Disorder, abnormal genitalia, aristaless-related homeobox, ataxia, congenital hypotonia, expressive speech disorder, genetic neurodevelopmental syndrome, genitourinary abnormalities, global developmental delay, homeobox-containing transcription factor, human, intellectual disability, nervous system developmental defects, neurodevelopmental disorders, structural CNS malformations, zinc
Author NameAffiliation
Mariska DavidsNational Human Genome Research Institute
Mariska DavidsNational Human Genome Research Institute
Lynne A WolfeNational Human Genome Research Institute, USA Office of the Clinical Director
Lynne A WolfeNational Human Genome Research Institute, USA Office of the Clinical Director
Camilo ToroNational Human Genome Research Institute, USA Office of the Clinical Director
Cynthia J TifftNational Human Genome Research Institute, USA Office of the Clinical Director
Cynthia J TifftNational Human Genome Research Institute, USA Office of the Clinical Director
Shinya YamamotoJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine
David R AdamsNational Human Genome Research Institute, USA Office of the Clinical Director
David R AdamsNational Human Genome Research Institute, USA Office of the Clinical Director
Thomas C MarkelloNational Human Genome Research Institute, USA Office of the Clinical Director
William A GahlNational Human Genome Research Institute, USA Office of the Clinical Director
William A GahlNational Human Genome Research Institute, USA Office of the Clinical Director
Hugo J BellenJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, USA Howard Hughes Medical Institute
Hugo J BellenJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, USA Howard Hughes Medical Institute
Michael F WanglerJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine
May Christine V MalicdanNational Human Genome Research Institute, USA Office of the Clinical Director
May Christine V MalicdanNational Human Genome Research Institute, USA Office of the Clinical Director
  • 1 - 18

Datasets

Release 1.2