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
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
Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".
Yanagishita T 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
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