Moreover, cases with PVs such as p.(Arg1276) [24], p.(Lys1423) [24], and p.(Arg1809) [31] missense PVs appear to be associated with a higher prevalence of congenital heart malformations (CHM), including pulmonic valvular stenosis (PVS), compared to “classic” NF1. This evidence concerns the gene NF1 and choroideremia.