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Paper Details

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Nat Genet
38
2021
II-spectrin, Mice, SPTBN1, SPTBN1 variants, autistic features, autosomal dominant neurodevelopmental syndrome, deficient in neuronal II-, developmental delay, developmental, language and motor delays, dysmorphic facial features, hypotonia, intellectual disability, neurodevelopmental syndrome, neuronal II-spectrin, seizures, spectrin, spectrinopathies
Author NameAffiliation
Rebecca C SpillmannDuke University Medical Center, Duke University
Renske OegemaUniversity Medical Center Utrecht
Ingo HelbigThe Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania
Ingo HelbigChildren's Hospital of Philadelphia
Ingo HelbigChildren's Hospital of Philadelphia
Ingo HelbigUniversity of Pennsylvania, Perelman School of Medicine
Damian SmedleyWilliam Harvey Research Institute, Queen Mary University of London
Helen V FirthCambridge University Hospitals
Helen V FirthWellcome Sanger Institute
Evan E EichlerUniversity of Washington School of Medicine
Evan E EichlerHoward Hughes Medical Institute, University of Washington
Evan E EichlerUniversity of Washington School of Medicine
Evan E EichlerHoward Hughes Medical Institute, University of Washington
Allyn McConkie-RosellDuke University Medical Center, Duke University
Pavel N PichurinCenter for Individualized Medicine, Mayo Clinic
Pavel N PichurinCenter for Individualized Medicine, Mayo Clinic
Juliane WinkelmannInstitute of Neurogenomics
Juliane Winkelmann
Juliane WinkelmannTechnische Universitat Munchen
Juliane WinkelmannInstitute of Human Genetics, Technical University of Munich
Michael T ZimmermannMedical College of Wisconsin
Michael T ZimmermannMedical College of Wisconsin
Michael T ZimmermannClinical and Translational Sciences Institute, Medical College of Wisconsin
Eric W KleeCenter for Individualized Medicine, Mayo Clinic
Eric W KleeMayo Clinic
Eric W KleeMayo Clinic
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