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DLG4-related synaptopathy
De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
Recurrent KIF2A mutations are responsible for classic lissencephaly