LZTR1 and Noonan syndrome: The LP LZTR1 splice site variant (c.2407-1G > A) identified in our study has not been reported before, but a variant in the adjacent base (c.2407-2A > G) has been reported in Noonan syndrome patients (homozygous and one heterozygote in ClinVar) and in schwannomatosis patients49,50.