Genetic Evaluation of Common Neurocutaneous Syndromes

Gursoy S., Ercal D.

PEDIATRIC NEUROLOGY, cilt.89, ss.3-10, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 89
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.pediatrneurol.2018.08.006
  • Dergi Adı: PEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.3-10
  • Anahtar Kelimeler: Neurocutaneous syndromes, Neurofibromatosis, Tuberous sclerosis complex, Sturge-Weber syndrome, Genetic approach, Mosaicism
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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. (C) 2018 Elsevier Inc. All rights reserved.