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2. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

3. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

5. Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

6. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

7. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

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