Furthermore, Noonan-like phenotype and pulmonic stenosis were more frequent in the studied cohort compared with the general NF1 population (P < 0.0001 and P = 0.0009, respectively; both statistically significant at FDR of 0.01 after B–H correction); however, 2/15 individuals showed presence of the 1q21.1 microdeletion syndrome (Fig. S2), which is associated with some Noonan-like features. Here, NF1 is linked to Pulmonic stenosis.