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Paper Details

Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disorders.
J Med Genet
5
2022
Arg1191Gln, Arg1330Trp, Asn1199Lys, C, C-terminal HECT domain, HECT domain, HECT domain variants, HECW2, HECW2 disorders, HECW2 variants, HECW2-related neurodevelopmental disorder, Phe1327Ser, cortical visual impairment, developmental delay, developmental language disorder, gastrointestinal issues, hypotonia, impaired language, intellectual disability, neurodevelopmental disorder, seizures, spasticity, vision problems
Author NameAffiliation
Abdul NasirAjou University
Suzanne M LealCenter for Statistical Genetics, Columbia University Medical Center
Suzanne M LealTaub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center
Irma J??rvel??University of Helsinki
Fanggeng Zou
Wendy K ChungColumbia University
Wendy K ChungColumbia University
Wendy K ChungColumbia University
Wendy K ChungColumbia University
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