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Genetic Evaluation of Common Neurocutaneous Syndromes
1Department of Pediatric Genetics, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
Abstract:
The neurocutaneous syndromes are a group of multisystem disorders that affect the skin and central nervous system. Neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis complex, and Sturge-Weber syndrome are the four major neurocutaneous disorders that mainly present in childhood. In this review, we discuss the clinical findings and genetic diagnosis, related genes/pathways and genotype-phenotype correlations of these four neurocutaneous syndromes.
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