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  1. Article

    Open Access

    FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring

    FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of m...

    Reymundo Lozano, Catherine Gbekie in Journal of Neurodevelopmental Disorders (2021)

  2. Article

    Open Access

    Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

    Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of S...

    Alexander Kolevzon, Benjamin Angarita in Journal of Neurodevelopmental Disorders (2014)