PTPN11 and Noonan syndrome: Exome sequencing followed by Sanger validation in Individual III-2 revealed a de novo pathogenic PTPN11 variant (c.236A>G, p.(Gln79Arg)), consistent with Noonan syndrome, accounting for her history of short stature, pulmonic stenosis, and failure to thrive, but not her CFNS clinical diagnosis (Fig. 1A).