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Paper Details

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
5
2021
BCAS3, BCAS3 microtubule-associated cell migration factor, Bcas3, Drosophila, dysmorphic facial features, fibroblasts, global developmental delay, human, microcephaly, mouse, neurodevelopmental disorder, primary fibroblasts, pyramidal tract involvement, seizures, short stature, strabismus, syndromic neurodevelopmental disorder
Author NameAffiliation
Fowzan S AlkurayaCenter for Genomic Medicine, King Faisal Specialist Hospital and Research Center, College of Medicine, Alfaisal University
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
Elliott H SherrDepartment of Neurology and Institute of Human Genetics and Weill Institute for Neurosciences, University of California san francisco
Alistair T PagnamentaNational Institute for Health Research Oxford Biomedical Research Centre, University of Oxford
Siddharth BankaSt Mary's Hospital, Manchester University NHS Foundation Trust, University of Manchester
Nicolas CasadeiInstitute of Medical Genetics and Applied Genomics, University of Tubingen
Ana VelicUniversity of Tubingen
Boris Ma??ekUniversity of Tubingen
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tubingen
Henry HouldenQueen Square Institute of Neurology, University College London
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