Associated Papers
Autosomal recessive frameshift variant broadens HECW2-related disease spectrum.
Dehghanzad R et al.
European Journal of Medical Genetics, 2025
A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.
Zeng L et al.
Molecular Syndromology, 2025
A novel HECW2 variant in an infant with congenital long QT syndrome.
Imanishi R et al.
Human Genome Variation, 2023
37280227 (PubMed )
Supplement: 41439_2023_245_MOESM1_ESM.xlsx › Sheet1
Redefining the catalytic HECT domain boundaries for the HECT E3 ubiquitin ligase family.
Kane EI et al.
Bioscience Reports, 2022
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
Rodríguez-García ME et al.
Human Mutation, 2022
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A et al.
Journal of Medical Genetics, 2022
A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
Heide EC et al.
American Journal of Medical Genetics. Part A, 2021
HECW2-related disorder in four Japanese patients.
Yanagishita T et al.
American Journal of Medical Genetics. Part A, 2021
Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a.
Lu Q et al.
American Journal of Medical Genetics. Part A, 2021
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER et al.
Journal of Medical Genetics, 2017
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