• Semaphorin-plexin signaling: from axonal guidance to a new X-linked intellectual disability syndrome

    1 month ago - By Pediatric Neurology

    Semaphorins and plexins are ligands and cell surface receptors that regulate multiple neurodevelopmental processes such as axonal growth and guidance. PLXNA3 is a plexin gene located on the X chromosome that encodes the most widely expressed plexin receptor in fetal brain, plexin-A3. Plexin-A3 knockout mice demonstrate its role in semaphorin signaling in vivo. The clinical manifestations of semaphorin/plexin neurodevelopmental disorders have been less widely explored. This study aimed to describe the neurological and neurodevelopmental phenotypes of boys with maternally inherited...
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