Open access
Jul 2026
An integrated computational, clinical, and functional framework for assessing PTPN11 (SHP2) variant effects on ERK signaling and neural crest cell behavior in Noonan spectrum disorders
The findings provide a refined framework for PTPN11 variant classification, and reveal unexpected SHP2 functions in neural crest development, with lineage-specific sensitivity to SHP2 dosage.
M. Rodríguez-Martín, K. Cheriet, S. Adiba et al.
· medRxiv · 0 citations