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Paper Details

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
9
2022
CP, CTNNB1, CTNNB1 missense, CTNNB1 missense variants, CTNNB1 variants, NEDSDV, WNT, cerebral palsy, neurodevelopmental disorder, neurodevelopmental disorders, spastic diplegia, visual defects
Author NameAffiliation
Wendy K ChungColumbia University Irving Medical Center
Wendy K ChungColumbia University Irving Medical Center
Julie S CohenKennedy Krieger Institute, Johns Hopkins University School of Medicine
Angela Del PozoInstituto de Genetica Medica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER)
Dong LiCenter for Applied Genomics, Children's Hospital of Philadelphia Research Institute
Elaine H ZackaiChildren's Hospital of Philadelphia, PA Perelman School of Medicine, University of Pennsylvania
Guiomar Perez de NanclaresBioaraba Research Health Institute, Araba University Hospital
Michael L TressSpanish National Cancer Research Centre (CNIO)
Michael L TressSpanish National Cancer Research Centre (CNIO)
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