Associated Papers
Paracentric inversion disrupting the SHANK2 gene.
Huyghebaert J et al.
European Journal of Medical Genetics, 2025
Autism patient-derived SHANK2BY29X mutation affects the development of ALDH1A1 negative dopamine neuron.
Lai W et al.
Molecular Psychiatry, 2024
Identification of novel SHANK2 variants in two Chinese families via exome and RNA sequencing.
Wu Y et al.
Frontiers in Neuroscience, 2023
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.
Doddato G et al.
Genes, 2022
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.
Caumes R et al.
European Journal of Medical Genetics, 2020
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