Literature DB >> 30424961

Genetic Evaluation of Common Neurocutaneous Syndromes.

Semra Gürsoy1, Derya Erçal2.   

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.
Copyright © 2018. Published by Elsevier Inc.

Entities:  

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

Mesh：

Year:  2018        PMID： 30424961     DOI： 10.1016/j.pediatrneurol.2018.08.006

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  5 in total

1.  Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Authors:  Martino Ruggieri; Agata Polizzi; Gioacchino Paolo Marceca; Stefano Catanzaro; Andrea D Praticò; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2020-09-17       Impact factor: 1.475

Review 2.  Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons.

Authors:  Federico Bianchi; Anna Maria Auricchio; Domenica Immacolata Battaglia; Daniela Rosaria Pia Chieffo; Luca Massimi
Journal:  Childs Nerv Syst       Date:  2020-06-21       Impact factor: 1.475

Review 3.  The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.

Authors:  Vi Nguyen; Marcelo Hochman; Martin C Mihm; J Stuart Nelson; Wenbin Tan
Journal:  Int J Mol Sci       Date:  2019-05-07       Impact factor: 5.923

4.  Oculomotor nerve palsy in neurofibromatosis type 2.

Authors:  Aymen Shahab; Hafsa Sardar; Samaa Akhtar; Anam Safdar; Muhammad Ismail Safi; Izaz Ahmad; Faheemullah Khan
Journal:  Radiol Case Rep       Date:  2022-09-09

Review 5.  Human cerebral organoids - a new tool for clinical neurology research.

Authors:  Oliver L Eichmüller; Juergen A Knoblich
Journal:  Nat Rev Neurol       Date:  2022-10-17       Impact factor: 44.711
  5 in total

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