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Neurofibromatosis Type 1 Implicates Ras Pathways In The Genetic Architecture Of Neurodevelopmental Disorders, Jessica A. Kaczorowski, Taylor Smith, Amanda M. Shrewsbury, Leah R. Thomas, Valerie S. Knopik, Maria T. Acosta
Neurofibromatosis Type 1 Implicates Ras Pathways In The Genetic Architecture Of Neurodevelopmental Disorders, Jessica A. Kaczorowski, Taylor Smith, Amanda M. Shrewsbury, Leah R. Thomas, Valerie S. Knopik, Maria T. Acosta
Psychology and Child Development
The genetic architecture of neurodevelopmental disorders is largely polygenic, non-specific, and pleiotropic. This complex genetic architecture makes the search for specific etiological mechanisms that contribute to neurodevelopmental risk more challenging. Monogenic disorders provide an opportunity to focus in on how well-articulated signaling pathways contribute to risk for neurodevelopmental outcomes. This paper will focus on neurofbromatosis type 1 (NF1), a rare monogenic disorder that is associated with varied neurodevelopmental outcomes. Specifically, this paper will provide a brief overview of NF1 and its phenotypic associations with autism spectrum disorder, attention-deficit/hyperactivity disorder, and specific learning disorders, describe how variation within the NF1 gene …