PTPN11 and Noonan syndrome: The whole exome sequencing found a heterozygous variation in the PTPN11 gene (c.124A>G, p.Thr42Ala; chr12-112884189 A>G, NM_002834.5, rs397507501), confirming Noonan syndrome 1 (Phenotype MIM number: 163950, Location 12q24.13, Gene/Locus MIM number 1768762.2.4).