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Review
. 2018 Dec:89:3-10.
doi: 10.1016/j.pediatrneurol.2018.08.006. Epub 2018 Aug 10.

Genetic Evaluation of Common Neurocutaneous Syndromes

Semra Gürsoy  1 , Derya Erçal  2
Affiliations
Review

Genetic Evaluation of Common Neurocutaneous Syndromes

Semra Gürsoy et al. Pediatr Neurol. 2018 Dec.

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.

Keywords: Genetic approach; Mosaicism; Neurocutaneous syndromes; Neurofibromatosis; Sturge-Weber syndrome; Tuberous sclerosis complex.

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