结节性硬化
神经纤维瘤病
神经纤维瘤病
医学
表型
基因型
遗传综合征
生物
病理
遗传学
基因
儿科
作者
Semra Gürsoy,Derya Erçal
标识
DOI:10.1016/j.pediatrneurol.2018.08.006
摘要
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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