• Genetic Evaluation of Common Neurocutaneous Syndromes

    8 monthes ago - By Pediatric Neurology

    The neurocutaneous syndromes are a group of multisystem disorders that mainly affect the skin and central nervous system. Neurofibromatosis 1, Neurofibromatosis 2, Tuberous Sclerosis Complex and Sturge-Weber Syndrome are four major neurocutaneous disorders that arise from the neural crest tissue and mainly present in childhood. In this review, we aimed to discuss the clinical findings and genetic diagnosis, related genes/pathways and genotype-phenotype correlations of these neurocutaneous syndromes.
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