Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.

Ru-En YaoTingting YuYufei XuLi YuJiwen WangXiumin WangJian WangYiping Shen

Published in: Genes (2019)

Novel NF1 pathogenic variants are yet to be uncovered in under-studied NF1 patient populations; their identification will help to reveal novel genotype-phenotype correlations.

Keyphrases

signaling pathway
copy number
lps induced
pi k akt
nuclear factor
oxidative stress
genome wide
young adults
case report
single cell
immune response
cell proliferation
bioinformatics analysis
solid state