NF2 -related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.

Claire Forde Miriam Jane Smith George Joseph BurghelNaomi BowersNicola RobertsTim LavinJane HallidayAndrew Thomas KingScott RutherfordOmar N PathmanabanSimon LloydSimon FreemanDorothy HallidayAllyson ParryPatrick AxonJuliette J GairShazia AfridiRupert ObholzerRoger LaittOwen ThomasStavros Michael StivarosGrace VassalloDafydd Gareth Evans

Published in: Journal of medical genetics (2024)

This work confirms a much higher rate of de novo NF2 than previously reported and highlights the benefits of maintaining patient databases for accurate counselling.

Keyphrases

signaling pathway
lps induced
pi k akt
nuclear factor
oxidative stress
case report
high resolution
inflammatory response
copy number
smoking cessation
gene expression
toll like receptor
cell proliferation
dna methylation
artificial intelligence