Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Leora WitkowskiMitchell W DillonElissa MurphyMatthew S Lebo Heather Mason-Suares

Published in: Molecular genetics & genomic medicine (2020)

Adding NF1 and SPRED1 to RASopathy panels can speed diagnosis and improve patient management, without significantly increasing the burden of inconclusive results.

Keyphrases

signaling pathway
lps induced
pi k akt
nuclear factor
oxidative stress
case report
inflammatory response
toll like receptor