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
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
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
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