Associated Papers
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B et al.
Epilepsia, 2024
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.
Moutton S et al.
Clinical Genetics, 2018
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